Oe?a?inueeee iaoeiaee a?a??i?/iee oeaio? IIC Oe?a?ie

Ae/eiaa Aaiia Ia?e?aia

OAeE 616-56.7-53.2-07:577.213.3

EE?I?*IEE IIE?II?O?CI OA AAIAOE*IA AAOA?IAAII?NOUe NEIAe?IIO
IA?O?IA-AAEA

03.00.15 — aaiaoeea

AAOI?AOA?AO

aeena?oaoe?? ia caeiaoooy iaoeiaiai nooiaiy

eaiaeeaeaoa iaaee/ieo iaoe

Ee?a — 1999

Aeena?oaoe??th ? ?oeiien

?iaioa aeeiiaia a Oe?a?inueeiio iaoeiaiio oeaio?? iaaee/ii? aaiaoeee IIC
? IAI Oe?a?ie

Iaoeiaee ea??aiee — aeieoi? iaaee/ieo iaoe, i?ioani?

Naiioaaeia A?eoi? Iaaeiae/,

E?einueeee aea?aeaaiee iaaee/iee oi?aa?neoao ?i.N.?.Aai?a??anueeiai,

caa?aeoth/ee eaoaae?ith.

Io?oe?ei? iiiiaioe — aeieoi? iaaee/ieo iaoe, i?ioani?

I?e?inueea Ia??y Aiae???aia,

Oe?a?inueeee iaoeiaee oeaio?

?aae?aoe?eii? iaaeeoeeie AII Oe?a?ie,

caa?aeoth/a eaai?aoi???th;

eaiaeeaeao iaaee/ieo iaoe

Eiaeyinueea Aae?ia Ieeiea?aia,
Ee?anueea iaaee/ia aeaaeai?y

i?neyaeeieiiii? ina?oe ?i.I.E.Ooi?ea

IIC Oe?a?ie, aeioeaio eaoaae?e.

I?ia?aeia onoaiiaa — Euea?anueeee iaoeiai-aeine?aeiee ?inoeooo
niaaeeiai? iaoieia??, a?aeae?e ai?aeai?ieia?? a?iaeaeaii? oa niaaeeiai?
iaoieia??, IIC Oe?a?ie, i.Euea?a.

Cao?no a?aeaoaeaoueny “ 22 ”aeiaoiy 1999?. i 12-00 aiaeei? ia can?aeaii?
niaoe?ae?ciaaii? a/aiie ?aaee Ae 26.604.01 i?e Oe?a?inueeiio iaoeiaiio
a?a??i?/iiio oeaio?? IIC Oe?a?ie (253660,i.Ee?a-94, aoe.Iiioae?aiea,50).

C aeena?oaoe??th iiaeia iciaeiieoenue o a?ae?ioaoe? Oe?a?inueeiai
iaoeiaiai a?a??i?/iiai oeaio?o IIC Oe?a?ie (i.Ee?a-94,
aoe.Iiioae?aiea,50).

Aaoi?aoa?ao ?ic?neaiee “ 6” aa?aniy 1999?.

A/aiee nae?aoa?

niaoe?ae?ciaaii? a/aii? ?aaee ___________ Naeaciueia A.TH.

2

CAAAEUeIA OA?AEOA?ENOEEA ?IAIOE

Aeooaeuei?noue oaie

?icoiiaa a?aenoae?noue ? iaei??th c iaea?eueo iioe?aieo oi?i niaaeeiai?
iaoieia?? ? /ano?o ca ana i?eaiaeeoue aei ?iaae?aeiino? o ?aiiueiio
aeeoy/iio a?oe?. *anoioa ?? a iiioeyoe?? noaiiaeoue 1-3% [Aethi?ia
I.A.,1987]. Iicieia?/ia ae?aaiinoeea ??cieo oi?i ?icoiiai?
a?aenoaeino? ? aeoaea aaaeeeaith i?iaeaiith ? ia? aaeeea cia/aiiy aeey
i?io?eaeoeee oe??? iaoieia??. Oaeoi? niaaeeiaino? ? iaeiei c aaaeo/eo o
aeieeiaii? ie?aio?ai?? [Aeaa?ae?ieiaa ?.O., 1975].

Neiae?ii O-eaiei? o?iiiniie aai neiae?ii Ia?o?ia-Aaea (NIA), aeae?eaiee
a ie?aio iicieia?/io iaeeieoeth o 1979?. [Sutherland G.R., 1979] ?
iaea?eueo iioe?aiei na?aae iiiiaaiieo niaaeeiaeo caoai?thaaiue, ui
noi?iaiaeaeothoueny ?icoiiaith a?aenoae?noth. *anoioa caoai?thaaiiy
noaiiaeoue 1:5700 /ieia?e?a [Morton J.E.,1997, Bert B.A. oa ?i].
Neiae?ii oniaaeeiao?oueny ca O-c/aieaiei aeii?iaioiei oeiii c iaiiaiith
iaiao?aioi?noth oa aa??thth/ith aeni?aneai?noth.

A/aieie ??cieo iai?yie?a aoea i?iaaaeaia aaeeea e?euee?noue
aeine?aeaeaiue, i?enay/aieo ??ciei aniaeoai neiae?iio Ia?o?ia-Aaea.
Aoea aeyaeaia aa??aaaeuei?noue ee?i?/ieo i?iya?a o oai?eo [Ia??i/aaa
A.N.,1993, Lubs H.A., 1994 oa ?i.], niaoeeo?/i? oiiae eoeueoeaoaaiiy
e?ioioeeo?a i?e oeeoiaaiaoe/ieo aeine?aeaeaiiyo [Howard-Peebles P.N.,
1979, Sutherland G.R., 1987 oa ?i.] ineoiiaoieia?/i? iniaeeaino?,
oa?aeoa?i? o?eueee aeey oe??? oi?ie ?icoiiai? a?aenoaeino? [ Bregman
J.D., 1990, Mcgillirvay M.C., 1996 Lachiewicz A.M., 1997 oa ?i.].

Caaaeyee iieaeoey?ii-aaiaoe/iei aeine?aeaeaiiyi caoai?thaaiiy aoa
a?aee?eoee aai FMR1[Verkerk ALMH., 1991, Fu J.H., 1994, Heitz D.,1994],
iooaoe?? a yeiio i?ecaiaeyoue aei ?icaeoeo neiae?iio oa iiaee aeae
iooaoe?? — aeeiai?/ia iooaoe?y, yea oa?aeoa?eco?oueny aeniain??th
ioeeaioeae?a ?, a?aeiia?aeii, iiaee iaoai?ci oniaaeeoaaiiy.

Aeooaeueiei ie aaaaea?ii iiaeaeueoa aea/aiiy ee?i?/ieo i?iya?a neiae?iio
Ia?o?ia-Aaea, aeeoa?aioe?thaaiiy ?o ca nooiaiai ae?aaiinoe/iiai
cia/aiiy, aeae?eaiiy ie?aieo ee?i?/ieo oi?i, aa??aio?a ia?aa?ao
caoai?thaaiiy oa aeine?aeaeaiiy ?o aca?iica’yceo c ??cieie oeiaie
iooaoe?e. Nooo?aa cia/aiiy iathoue iieaeoey?ii-aaiaoe/i? aeine?aeaeaiiy
aaio FMR1 oa aeine?aeaeaiiy iniaeeainoae iaaeeei-aaiaoe/iiai
eiinoeueooaaiiy a n?i’yo oai?eo ia neiae?ii Ia?o?ia-Aaea.

Ca’ycie ?iaioe c iaoeiaeie i?ia?aiaie, ieaiaie, oaiaie

?iaioa aeeiiaia ca?aeii c oaiith iaoeiaeo aeine?aeaeaiue eaai?aoi??e
a?io?i?/ii? aaiaoeee oa iaaeeei-aaiaoe/iiai eiinoeueooaaiiy
Oe?a?inueeiai iaoeiaiai oeaio?o iaaee/ii? aaiaoeee “?ic?iaea iaoiae?a
iieaeoey?ii-aaiaoe/ii? ae?aaiinoeee iaea?eueo iioe?aieo a Oe?a?i?
iae?iaeaaaia?aoeaieo caoai?thaaiue oa ?icoiiai? a?aenoaeino? niaaeeiai?
i?e?iaee” (iiia? aea?aeaaii? ?a?no?aoe?? – 0197UAe19333, oeo? oaie
?i.109.98.).

Iaoa aeine?aeaeaiiy

Iaoith aeena?oaoe?eiiai aeine?aeaeaiiy aoei ?ic?iaeoe e?eoa???
aeeoa?aioe?eii? ae?aaiinoeee ??cieo ee?i?/ieo oi?i neiae?iio
Ia?o?ia-Aaea.

Caaaeaiiy aeine?aeaeaiiy

1.A?ae?a?aoe a?oio oai?eo c i?aeic?ith ia neiae?ii Ia?o?ia-Aaea.

2.I?iaanoe oeeoiaaiaoe/ia, iieaeoey?ii-aaiaoe/ia, ee?i?ei-aaiaaeia?/ia
? iaoiineoieia?/ia ianoaaeaiiy a?ae?a?aieo oai?eo. 3.I?iaanoe aiae?c
?ioi?iaoeaiino? oaiioei?/ieo iciae ??cieo ee?i?/ieo oi?i neiae?iio
Ia?o?ia-Aaea (a?aeiinii-niaoeeo?/ieo, aeniei?ioi?iaoeaieo ? oiiiaeo).

4.Aeae?eeoe iaea?eueo aaaii? ineoiiaoieia?/i? iniaeeaino? oai?eo ia
??ci? ee?i?/i? oi?ie NIA ? aea/eoe ?o aca?iica’ycie c oaiioei?/ieie
i?iyaaie.

5.I?iaanoe aiae?c anioe?aoe?? ee?i?/ieo i?iya?a ?
iieaeoey?ii-aaiaoe/ieo ci?i o oai?eo ia neiae?ii Ia?o?ia-Aaea oa
ae?iie-iin?eie i?aiooaoe??.

Iaoeiaa iiaecia ?iaioe

Aeena?oaoe?y ? ia?oei niaoe?aeueiei aeine?aeaeaiii, a yeiio i?iaaaeaii
eiiieaeniee aiae?c oaiioei?/ieo i?iya?a, ineoiiaoieia?/ieo iniaeeainoae,
i?io?eae ?icaeoeo, iieaeoey?ii-aaiaoe/ieo oa oeeoiaaiaoe/ieo ci?i o
oai?eo ia NIA.

Aia?oa aoei iieacaii, ui o oai?eo c iaeiaeiaei oeeoiaaiaoe/iei ia?ea?ii
iiaeooue aooe aeae?eai? ??ci? ee?i?/i? oi?ie c oa?aeoa?iei eiiieaenii
oaiioei?/ieo iciae, ui na?ae/eoue i?i ee?i?/iee iie?ii?o?ci neiae?iio
Ia?o?ia-Aaea. A iniia? aeyaeaiiai ee?i?/iiai iie?ii?o?cio caoai?thaaiiy
ciaoiaeeoueny ?noeiia aaiaoe/ia aaoa?iaaii?noue.

O oai?eo ia neiae?ii Ia?o?ia-Aaea aia?oa aoa iieacaiee ca’ycie i?ae
ie?aieie oaiioei?/ieie iciaeaie.

Aoea ciaeaeaia ei?aeyoe?y i?ae ??aiai ?ioaeaeooaeueiiai aeao?oeeoo o
oai?eo ? nooiaiai aeenieanoe/iino? oaiioeio. Aoee aecia/ai? iniaeeaino?
iiceiai? i?aai?caoe?? ineo?/ieo i?ioean?a o oai?eo.

I?e aea/aii? ?ioaeaeooaeueiiai noaoono ae?iie-iin?eie i?aiooaoe?? o aai?
FMR1 aoea ciaeaeaia ei?aeyoe?y i?ae ?ioaeaeooaeueiei ??aiai oeeo ae?iie
oa ?ici??ii i?aiooaoe??.

I?aeoe/ia cia/aiiy ?iaioe

Aoee ?ic?iaeai? e?eoa??? aeeoa?aioe?eii? ae?aaiinoeee neiae?iio
Ia?o?ia-Aaea, ye? aeeth/athoue ?acoeueoaoe oaiioei?/iiai aiae?co,
iaoiineoieia?/iiai oanooaaiiy, oeeoiaaiaoe/iiai ?
iieaeoey?ii-aaiaoe/iiai ianoaaeaiue oai?eo. Iaeneiaeueia i?eaeeaeai?noue
aeine?aeaeaiue aei oiia cae/aeii? ae?aaiinoeee aeicaiey? ia?aianoe
iaea?aeai? aeai? o iianyeaeaiio i?aeoeeo e?ea?y-aaiaoeea c iaoith
iioe?aiiy eiai ae?aaiinoe/ieo iiaeeeainoae.

Aoei iieacaii, ui ?acoeueoaoe oeeoiaaiaoe/iiai ianoaaeaiiy ia caaaeaee ?
a??ia?aeieie aeey anoaiiaeaiiy ae?aaiico NIA.

Io?eiai? aeai? iathoue aaeeea cia/aiiy aeey i?iaaaeaiiy i?aiaoaeueii?
ae?aaiinoeee neiae?iio Ia?o?ia-Aaea oa aecia/aiiy aaoa?iceaioiiai
iin?enoaa iooaoe?e o aai? FMR1 o ?iaee/ie i?iaaiae?a ? a iiioeyoe??.

Ai?iaaoe?y ?acoeueoao?a aeine?aeaeaiiy

Iniiai? ?acoeueoaoe ?iaioe iia?aeiieai? oa iaaiai?ai? ia 2-io
Ananithciiio c’?cae? iaaee/ieo aaiaoee?a, ia 1-io oa 2-io c’?caeao
iaaee/ieo aaiaoee?a Oe?a?ie, can?aeaiiyo i?nueeiai oiaa?enoaa iaaee/ieo
aaiaoee?a oa aeeoy/eo ineo?ao??a, eo?nao i?neyaeeieiiii? ina?oe
e?ea??a-aaiaoee?a. Ca oaiith aeena?oaoe?? iioae?eiaaii 5 noaoae oa 4
oac?a, ia?ae?e ?o i?eaaaeaii.

Iniaenoee aianie caeiaoaa/a o i?iaaaeaiiy aeine?aeaeaiue

Iiooe oa aiae?c e?oa?aoo?e c aeaii? i?iaeaie, ?ic?iaea i?aeoiae?a,
iinoaiiaea caaaeaiue aeine?aeaeaiiy, iaaiai?aiiy ?acoeueoao?a oa
oi?ioethaaiiy aeniiae?a aeeiiai? aeena?oaioii iniaenoi. Oaeiae
aeena?oaioii ?ic?iaeaia noaia ianoaaeaiiy oai?eo c i?aeic?ith ia
neiae?ii Ia?o?ia-Aaea, naiino?eii aeeiioaaany aanue eiiieaen
ee?i?ei-aaiaaeia?/ieo, iaoiineoieia?/ieo oa oeeoiaaiaoe/ieo
aeine?aeaeaiue oai?eo.

No?oeoo?a oa ianya ?iaioe

Aeena?oaoe?y neeaaea?oueny c anooio, iaeyaeo e?oa?aoo?e, ?icae?eo
aeanieo aeine?aeaeaiue oa ?o iaaiai?aiiy, caeeth/aiiy, aeniiae?a, nieneo
e?oa?aoo?e e aeiaeaoeo. ?iaioa aeeeaaeaia ia 142 noi??ieao
iaoeiiieniiai oaenoo. Oaeno aeena?oaoe?? ?ethno?iaaiee 19 oaaeeoeyie oa
4 iaethieaie. Nienie e?oa?aoo?e i?noeoue 215 aeaea?ae.

CI?NO ?IAIOE

Iaoa??aee oa iaoiaee aeine?aeaeaiiy

?iaioa aeeiioaaeanue ia aac? Oe?a?inueeiai iaoeiaiai oeaio?o iaaee/ii?
aaiaoeee IIC Oe?a?ie ? Ee?anueeiai i?aeiaeaniiai iaaeeei-aaiaoe/iiai
oeaio?o i?ioyaii 10 ?ie?a. Aoei a?ae?a?aii 53 iaoe??ioa /ieia?/i? noao?
o a?oe? a?ae 3-o aei 53-o ?ie?a, ui iaee ie?ai? ee?i?/i? iciaee
neiae?iio Ia?o?ia-Aaea. Oai?ei i?iaiaeeeiny eiiieaenia ianoaaeaiiy c
canoiniaoaiiyi ee?i?ei-aaiaaeia?/iiai, niiaoi-aaiaoe/iiai iaoiae?a;
ioe?ithaaany ineo?/iee oa iaa?ieia?/iee noaoon, aea/aeeny iniaeeaino?
iiae oai?eo (oaii, ?ioiiaoe?y, e?iaa?noe/i? oa naiaioe/i?
oa?aeoa?enoeee), i?iaiaeeeiny iaoiineoieia?/ia oanooaaiiy,
oeeoiaaiaoe/ia oa iieaeoey?ii-aaiaoe/ia aeine?aeaeaiiy. Oaea iaoiaeeea
aeicaieeea neeanoe iaea?eueo iiaio oyao i?i ee?i?/i? iniaeeaino? ??cieo
oi?i neiae?iio Ia?o?ia-Aaea oa ?o ca’ycie c iieaeoey?ii-aaiaoe/ieie
ci?iaie. I?ae /an aeine?aeaeaiiy aeei?enoiaoaaeany ?ic?iaeaia iaie ea?oa
ianoaaeaiiy oai?iai. Ea?oa neeaaeaeany c ea?oe oaiioeio, ea?oe
ineo?/iiai noaoono oa ?icae?eo “iiaaae?ieia? oa?aeoa?enoeee”.

Eiio?ieueio a?oio neeaee iaoe??ioe c iaaeeoa??ioe?eiaaieie oi?iaie
ie?aio?ai?? ??ciiai nooiaith oyaeeino? (?o a?e a?aeiia?aeaa a?eo oai?eo
iniiaieo a?oi).

Oeeoiaaiaoe/ia aeine?aeaeaiiy aeeiioaaeiny ia i?aia?aoao iaoaoacieo
o?iiinii, io?eiaieo c e?ioioeeo?a ia??oa??eii? e?ia? oa eoeueoeaiaaieo
in vitro ca iaoiaeii, cai?iiiiiaaiei Aaaeaeueaa?aith O.A., 1986.
Iniaeea?noth oeueiai iaoiaeo ? noeioethaaiiy i?oioe/ii? aeoeaiino?
ee?oei e?ia? a oiiaao aeao?oeeoo oieaoia a eoeueoo?aeuei?e noi?o?.

Aeey ?aeaioeo?eaoe?? o?iiinii aeei?enoiaoaaee G-iaoiae aeeoa?aioe?eiiai
oa?aoaaiiy. O eiaeiiio aeiaaeeo aeine?aeaeoaaee 100 iaoaoacieo
ieanoeiie, a eio?eo aea/aee aeiaaa iea/a O-o?iiiniie. ?acoeueoao
aaaaeaany iiceoeaiei, yeui o 4-5 % ieanoeiie ciaoiaeeee eaieo ae?eyieo
o o?aaiaio? Oq27-28.

Aeae?eaiiy oa i/euaiiy i?aia?ao?a eaeeioeeoa?ii? AeIE i?iaiaeeee ca
iaoiaeii H.Wehnert, 1988. Aeei?enoiaoaaee iaoiae aeio-a?a?eae?caoe?? oa
i?iaiaeeee aiie?o?eaoe?th AeIE in vitro ca iaoiaeii iie?ia?acii?
eaioethaiai? ?aaeoe?? (IE?) ca Brown oa ?i., 1993. A?aenooi?noue
i?iaeoeoo aiie?o?eaoe?? naeae/eei aai i?i aaeeeo e?euee?noue iiaoi??a
(a?eueoa i?ae 200), ui oiaiiaeeeaeth? i?iaaaeaiiy IE?, aai i?i
iiaeeea?noue aeaeaoe?? o aeaiiio ?aa?ii? aaio. Aeaoaeoe?th i?iaeoeo?a
aiie?o?eaoe?? i?iaiaeeee ca iaoiaeii aeio-a?a?eae?caoe??.

Aeine?aeaeaiiy ?ioaeaeooaeueieo ooieoe?e i?iaaiae?a oa /eai?a ?o ?iaeei
i?iaiaeeee ca aaeaioiaaiei aeey iaoeaioe?a Oe?a?ie iaoiaeii Aaenea?a
(WISC), [Aeeueaoo TH.C., 1991]. Iaoiaeeea neeaaea?oueny c 11 oeae,
eiaeia c yeeo a?aeiia?aea? iaai?e ooieoe?? ?ioaeaeoo. Ie??i
aei??thaaiue e?euee?nieo iieaciee?a ?ioaeaeoo, ?acoeueoaoe eiaeii? oeaee
na?ae/aoue i?i caoe?eaaeai?noue iaaii? iiceiai? ooieoe??. Oaeei /eiii ie
iaea?aeo?ii ia o?eueee e?euee?ni? oa?aeoa?enoeee ?ioaeaeooaeueieo
ooieoe?e, aea e iiaeaii noaeeoe i?i ye?ni? ci?ie iaaieo ooieoe?e iiceo
oa o?aaeaiiy eiie?aoieo eiai a?aeae?e?a.

Iaea?aeai? a ?acoeueoao? iaoiineoieia?/ieo aeine?aeaeaiue aeai?
i?aeeyaaee ye?niiio aiae?co, ni?yiiaaiiio ia aeyaeaiiy ia?aeiiiai
aeaoaeoo.

Noaoenoe/i? iaoiaee aeeth/aee a naaa aecia/aiiy aeenia?n?? aeai?ee,
eiao?oe??ioo No’thaeaiaoa, a??ia?aeiino? eiao?oe??ioo No’thaeaioa oa
eiao?oe??io?a ei?aeyoe??. Ia/eneaiiy i?iaiaeeee ia ia?niiaeueiiio
eiii’thoa?? ca aeiiiiiaith noaoenoe/iiai iaeaoo “STATISTICA 5,0”.

?acoeueoaoe aeine?aeaeaiiy oa ?o iaaiai?aiiy

On?i 53-i oai?ei aoei i?iaaaeaii oeeoiaaiaoe/ia aeine?aeaeaiy
e?ioioeeo?a e?ia? oa iieaeoey?ii-aaiaoe/iee aiae?c AeIE, aeae?eaii? c
eaeeioeeo?a.

I?e iieaeoey?ii-aaiaoe/iiio aiae?c? AeIE oai?eo aoee io?eiai? oae?
aeai?: o 13 i?iaaiae?a aoei aeyaeaii ca?eueoaiiy e?eueeino? CGG- eii?e
(250-2500), ui a?aeiia?aeaei iiai?e iooaoe?? a aai? FMR-1. O iaeiiai
i?iaaiaea aoea aeyaeaia niiioaiia aeaeaoe?y a CGG-iaeano? oeueiai aaio.
O 12 c ieo i?e oeeoiaaiaoe/iiio aeine?aeaeaii? aoea aeyaeaia eaie?noue a
?aeii? Xq27. Oaeei /eiii, iayai?noue iooaoe?? a aai? FMR1 ia caaaeaee
noi?iaiaeaeo?oueny oa?aeoa?ieie ci?iaie ea??ioeio. 14 oai?eo c
iooaoe??th a aai? FMR-1 neeaee a?oio niinoa?aaeaiiy “iiaia iooaoe?y”
(II).

O 13 i?iaaiae?a c aeyaeaiith eaie?noth O-o?iiiniie aoee a?aenooi?
iieaeoey?ii-aaiaoe/i? ci?ie a aai? FMR1. Oe? oai?? neeaee a?oiio
niinoa?aaeaiiy “a?aenooi?noue iooaoe??” (AI).

Oai?? c iaaaoeaieie ?acoeueoaoaie ye oeeoiaaiaoe/iiai, oae ?
iieaeoey?ii-aaiaoe/iiai aiae?co (26 i?iaaiae?a) neeaee a?oio
niinoa?aaeaiiy “iaaaoeai? ?acoeueoaoe” (I?).

Aoee i?iaiae?ciaai? oneeaaeiaiiy ia?aa?ao aaa?oiino? ? iieia?a o iaoa??a
ianoaaeaieo i?iaaiae?a. Aoei iieacaii, ui iaeieae/ee ??aaiue
oneeaaeiaiue aaa?oiino? a?aecia/aany a a?oi? II, a iaeaeuee a a?oi? I?
oa a eiio?ieuei?e a?oi? (oaaeeoey 1). Oaeei /eiii o iioiaeaeaii?
?icoiiai? a?aenoaeino? o i?iaaiae?a aeciaaii? oaeoi?e iaee a?eueo aaeeea
cia/aiiy o a?oiao I? ? eiio?ieuei?e. Iecueea /anoioa caa?ice ia?a?eaaiiy
aaa?oiino? o iaoa??a i?iaaiae?a c a?oie II na?ae/eoue i?i oa, ui i?e
neiae?ii? Ia?o?ia-Aaea ia aeieea? a?oaiai o?aaeaiiy ieiaeo.

Oaaeeoey 1 Ii??aiyeueiee aiae?c oneeaaeiaiue ia?aa?ao aaa?oiino? o
iaoa??a oai?eo c a?oi niinoa?aaeaiiy ? c eiio?ieueii? a?oie

Oneeaaeiaiiy aaa?oiino?*anoioa (%)
A??ia?aei?noueA?oia

IIA?oia

AIA?oia

I?Eiio?ieue-

ia a?oia?ii-ai?ii-i??ai-i??ii-e?ai-e?i?-eCaa?ica
ia?a?eaaiiy7,17,82328,20,0550,780,7430,8450,8160,282Oien?eic7,12331500,7
450,9030,3890,9820,8410,750Iao?iiao?y7,12319,235,70,7450,740,2120,9240,5
230,743Aiai?y—2342,8-0,940,9310,990,9870,8Iaaeiiooaaiiy-7,819,235,70,70
30,9110,6350,980,9060,743Ia?aiiooaaiiy-7,82328,20,7030,940,7430,9590,816
0,281?io? caoai?thaaiiy i?ae /an aaa?oiino?
—19,235,7-0,9110,90,980,9750,74316

Aiae?c ?iaeiaiae?a ianoaaeaieo oai?eo iieacaa, ui a a?oi? niinoa?aaeaiiy
II a 3-o n?i’yo (21% aeiaaee?a) aoa anoaiiaeaiee O-c/aieaiee oa?aeoa?
oniaaeeoaaiiy ?icoiiai? a?aenoaeino?. A a?oi? niinoa?aaeaiiy AI oeae oei
oniaaeeoaaiiy aoa aeyaeaiee a 2-o n?i’yo (14,6%) ?iaeiaiae?a. A a?oi?
niinoa?aaeaiiy I? O-c/aieaiee oa?aeoa? oniaaeeoaoaiiy aoa aeyaeaiee
o?eueee a 1-e n?i’? ( 3,8% aeiaaee?a). A oe?e aea a?oi? a 2-o n?i’yo aoa
anoaiiaeaiee aooiniiii-?aoeaneaiee oa?aeoa? oniaaeeoaaiiy caoai?thaaiiy.
Oaeei /eiii, iooaoe?? a aaiao, ui eieae?ciaai? a O-o?iiinii?, iaee
iaea?eueoee aeeaae a iioiaeaeaiiy ?icoiiai? a?aenoaeino? o oai?eo a?oie
niinoa?aaeaiiy II, ui aoei i?aeoaa?aeaeaii aeyaeaieie o i?iaaiae?a oe???
a?oie iieaeoey?ii-aaiaoe/ieie ci?iaie.

Aeine?aeaeaiiy ?iaeea?aeoaeueieo i?io?e?a ?icaeoeo ianoaaeaieo
i?iaaiae?a iieacaei iaea?eueo cia/io cao?eieo ?icaeoeo o i?iaaiae?a c
a?oie niinoa?aaeaiiy AI oa cia/ii iaioo o i?iaaiae?a c eiio?ieueii?
a?oie. O i?iaaiae?a c a?oi II ? AI ia?aaaaeaei iaaei?icaeiaiiy iiae
(iiyaa o?aciai? iiae a 4,5 ? a 5 ?ie?a a?aeiia?aeii). Ne?ae aaaaeaoe, ui
?icoiaeaeaiiy a ?iaeea?aeoaeueieo i?io?eyo ?icaeoeo iaoiiaeai?
iniaeea?noth aieeao a?aaeath/iai oaeoi?o ia ?icaeoie iiceo ieiaeo.

O ianoaaeaieo i?iaaiae?a aoa i?iaaaeaiee oaiioei?/iee aiae?c ca 27
iciaeaie, ye? o ieo cono??eeny. Aeyaeai? i?e?iaiiiae?? o oai?eo
cono??/aeeny c ??ciith /anoioith ? a ??cieo eiia?iaoe?yo. I? o iaeiiai
oai?iai ia aoee i?aaenoaaeai? an? 27 aiiiae?e. Ii??aiyeueiee aiae?c
oaiioei?/ieo iciae i?iaaiae?a c a?oi niinoa?aaeaiiy II ? AI
i?aaenoaaeaiee o oaaeeoe? 2:

Oaaeeoey 2 ?acoeueoaoe ii??aiyeueiiai oaiioei?/iiai aiae?co i?iaaiae?a c
a?oi niinoa?aaeaiy II ? AI
A??ia?aei?noue

NOaiioei?/ia iciaea*anoioa (a %) t PA?oia IIA?oia AI
1Iae?ioeaoae?y 28,6 15,40,920,63 2Ci?ie oi?ie /a?aio 28,6
15,40,920,63 3Aeiaaa iaee//y 85,7 233,411,00Oae 4Aaeeea
i?aeai??aeaey 50 46,20,380,29 5 I?n c aecueiaiaeaeiei e?i/eeii
42,8 7,72,180,96Oae 6 Aenieee eia 35,7 46,2 0,390,3 7Yi?eaio
35,7 69,21,510,86I?iaeiaaeaiiy oaaeeoe? 2

9A?ia?oaei??ci 21,4 46,2 1,210,7610Aioeiiiaiei?aeiee ?ic??c i/ae
21,4 53,8 1,930,95Oae11Ieanea na?aaeiy 1/3 iaee//y 57,1
231,930,95Oae12Aeniea i?aeiaa?iiy 64,3 61,5 0,390,313Ii?ooaiiy
i?eeono 92,9 30,83,481,00Oae14Ii?ooaiiy ?inoo ? oi?ie coa?a 64,2
15,4 2,710,99Oae15Aaeee? aooi? ?aeiaeie 50 30,80,16 -16Aeiioo?
aooi? ?aeiaeie 57,1 30,8 — -17Iae?ii?o?ae?ci 57,1
231,930,95Oae18I?ieain i?o?aeueiiai eeaiaio 21,4
7,71,930,95Oae19A?ia??ooii?noue noaeia?a 50 38,5 — -20Ci?ie
iaeueoe?a 35,7 15,40,760,5521Ci?ie e?ioe?aie 21,4
231,310,822Ii?ooaiiy ?inoo 21,4 — — -23Ii?ooaiiy aaae 14,2
7,7 0,610,4524*ano? io?oe 21,4 — — -25Iaa?ye iia?e —
53,8 — -26 Ianoici?noue iaee//y — 46,2 — -27Aiiiae??
aea?iaoiae?o?ee. 7,7 — — —

Aea t – eiao?oe??io No’thaeaioa, a ? – a??ia?aei?noue eiao?oe??ioo
No’thaeaioa.

A?eueo?noue aeyaeaieo iciae ? oiiiaeie. Aei ieo iiaeia a?aeianoe
iae?ioeaoae?th, aeiaaa iaee//y, ieaneo na?aaeith o?aoeio iaee//y,
aaeeea i?aeai??aeaey, aenieee eia oa ?io?. Aei aeniei?ioi?iaoeaieo iciae
a a?oi? niinoa?aaeaiiy II aoee a?aeianai? iae?ii?o?ae?ci, i?n c
aecueiaiaeaeiei e?i/eeii oa /ano? io?oe, ca’ycai? c iniaeeaith aoaeiaith
?anoao??ai? o?oae.

E?euee?noue iciae, ye? cono??eeny o iaeiiai oai?iai a a?oi?
niinoa?aaeaiiy II eieeaaeanue a?ae 6 aei 14, a na?aaeiueiio, 9,53,4, a a
a?oi? niinoa?aaeaiiy AI a?ae 6 aei 10, a na?aaeiueiio, 7,52,6.

A??ia?aeio ??cieoeth i?ae a?oiaie aoei aeyaeaii ii oaeei iciaeai, ye
aeiaaa iaee//y, i?n c aecueiaiaeaeiei e?i/eeii, ieanea na?aaeiy o?aoeia
iaee//y, iae?ii?o?ae?ci, i?ieain i?o?aeueiiai eeaiaio, eio?? a??ia?aeii
/ano?oa cono??eeny o oai?eo c a?oie niinoa?aaeaiiy II. *ano? io?oe,
ii?ooaiiy ?inoo ? aaae, ci?ie aea?iaoiae?o?ee aoee a?aei?/ai? o?eueee o
oai?eo c oe??? a?oie. O a?oi? niinoa?aaeaiiy AI a??ia?aeii /ano?oa
cono??any o?eueee aioeiiiaiei?aeiee ?ic??c i/ae, a ianoici?noue iaee//y
oa iaa?ye iia?e aoee a?aei?/ai? o oai?eo o?eueee oe??? a?oie.

Aoa aecia/aiee ca’ycie i?ae ie?aieie iciaeaie a a?oi? niinoa?aaeaiiy II.
Aoei aeyaeaii, ui aenieee eia cono??/a?oueny caaaeaee o eiia?iaoe?? c
a?ia?oaei??ciii ? ieaneith na?aaeiueith o?aoeiith iaee//y, a aeniea
i?aeiaa?iiy ca’ycaii c ii?ooaiiyi i?eeono.

Ine?eueee oai?? a?oie niinoa?aaeaiiy II ia iaee aeiaeiiai
aenieiniaoeeo?/iiai ? iaeo e?euee?noue aeniei?ioi?iaoeaieo iciae, ?o
oaiioei oa?aeoa?ecoaaany iniaeeaei ii?aeiaiiyi iciae. Oe? oai?? a?eueo
noiae? i?ae niaith, i?ae c? nai?ie aaoueeaie. Oaeei /eiii o aeaiiio
aeiaaeeo ne?ae aeei?enoiaoaaoe «ii?o?aoio ae?aaiinoeeo» caoai?thaaiiy.
Ia iniia? niaoeeo?/iiai eiiieaeno ee?i?/ieo neiioii?a oa ?acoeueoao?a
iieaeoey?ii-aaiaoe/ieo aeine?aeaeaiue iaie aoea aeae?eaia ia?oa ee?i?/ia
oi?ia neiae?iio Ia?o?ia-Aaea, ui a?aeiia?aeaea a?oi? niinoa?aaeaiiy II

A a?oi? niinoa?aaeaiiy AI oaae niinoa??aaeany «ii?o?aoia» noiae?noue
i?ae oai?eie. Iniaeeai noiaeeie i?ae niaith aoee oai??, ui iaee
ianoici?noue iaee//y oa iaa?ye iia?e. O oai?eo oe??? a?oie ia aoei
aeyaeaii iieaeoey?ii-aaiaoe/ieo ci?i a aai? FMR1, a aoee a?aei?/ai?
o?eueee iaeiaeia? ?acoeueoaoe oeeoiaaiaoe/iiai ianoaaeaiiy (eaie?noue
O-o?iiiniie o ?aeii? q27-28) oa niaoeeo?/iee oaiioei. Ia iniia? a?oie
AI aoea aeae?eaia ae?oaa ee?i?/ia oi?ia neiae?iio. Iiaeeeai a iniia?
oe??? oi?ie eaaeaoue iooaoe?? ?ioeo aai?a O-o?iiiniie.

Oaeei /eiii, oeeoiaaiaoe/iee ia?ea? — i?aeaeuaia /anoioa eaieino? o
?aeii? Oq27-28 ? eeoa iaeiaeiaei oaiioei?/iei ia?ea?ii, yeee cono??any o
aaiaoe/ii aaoa?iaaiieo a?oiao. A neiae?ii Ia?o?ia-Aaea oyaey? c naaa
aeae?eueea, ye i?i?ioi aea? ee?i?/i? oi?ie, a iniia? yeeo ciaoiaeyoueny
??ci? iooaoe??.

O oai?eo a a?oi? niinoa?aaeaiiy I? cono??eeny ia on? oaiioei?/i?
iciaee. E?euee?noue i?e?iaiiiae?e o iaeiiai oai?iai a oe?e a?oi?
eieeaaeanue a?ae 4-o aei 8, a na?aaeiueiio 4,31,7. Caeaa?eueoiai oea
aoee oiiia? iciaee. A?oio niinoa?aaeaiiy I?, iiaeeeai neeaaeathoue
aaoa?iaaii? caoai?thaaiiy, i?e/eiaie yeeo iiaee aooe ye ??ci? aaii?
iooaoe??, oae ? aeciaaii? oaeoi?e.

Ca aeiiiiiaith iniaenoeo niinoa?aaeaiue, ?icieooaaiue ?iaee/?a oai?eo,
aea/aiiy iaaee/ii? aeieoiaioaoe?? aoa aeine?aeaeaiee ineo?/iee noaoon
oai?eo oa iniaeeaino? ?o iiaaae?iee. ?acoeueoaoe aeine?aeaeaiiy
iiaaae?ieiaiai oaiioeio ? ineoiiaoieia?/ieo aeaieo oai?eo c a?oi II ? AI
i?aaenoaaeai? o oaaeeoe? 3.

Oaaeeoey 3 ?acoeueoaoe ii??aiyeueiiai aiae?co ineoiiaoieia?/ieo
i?iya?a o i?iaaiae?a c a?oi niinoa?aaeaiiy II ? AI

A??ia?aei?noue

NIneoiiaoieia?/iee neiioii*anoioa

a a?oi? (%) t PII AI 1Aooeci57,1231,930,95Oae
2Oao?eae?y42,87,72,180,96Oae 3Yoieae?y57,1231,930,95Oae
4Ia?naaa?aoe??42,8- — — 5 Aeeneae?y28,615,41,600,82 6 Ca?eaiiy21,4-
— — 7Noa?aioeii? ?ooe35,715,41,530,86 8Iacae/aei? ?ooe14,2- — —
9Ii?ooaiiy
eii?aeeiaoe??28,615,40,920,6310A?ia?aeoeai?noue57,1231.930,95Oae11Ii?ooa
iiy oaaae35,715,40,760,5512Iacae/.?aaeoe?y ia iiae?acieee21,4- —
-13Aa?aneai?noue35,730,80,410,3014Iay/aiiyiiae?ai? oaioac??28,6- —
-15No?ao, o?eaiaa42,8 7,72,180,96Oae16Aiioe?iiaeueia
eaa?euei?noue42,815,41,940,95Oae17O?oaeiiu? o aeyaeaii?.aiioe?e21,4- —
-18Ii?ooaiiy nio21,47,71.930.95Oae19Ii?ooaiiy oa?/oaaiiy21,4- —
-20Eioaioeeuei?noue15,4- — -21Iacae/aei? ?ioa?ane28,6- —
-22Ai?neiae?ii14,215,41,29 0,723Aio?ac, aieii?ac14,2- — —

Iniiai? ineoiiaoieia?/i? neiioiie cono??eeny o oai?eo iaio a?oi, aea a
a?oi? niinoa?aaeaiiy II ineoiiaoieia?/ia ea?oeia aoea a?eueo neeaaeiith
? ??ciiiai?oiith, a?aeoeeaiiy o ineo?/iiio noaoon? a?eueo cia/ieie, i?ae
o oai?eo c a?oie AI. O i?iaaiae?a c a?oie II a??ia?aeii /ano?oa
cono??eenue aooeci (ii?ooaiiy eiioaeoo), aiioe?iiaeuei? ii?ooaiiy,
?iceaaee iiae (oao?eae?y, aoieae?y, ia?naaa?aoe??), a?ia?aeoeai?noue.
Iiae?aia ineoiiaoieia?/ia neiioiiaoeea i?iyaeyeany a a?oi? AI o iaioiio
nooiai?.

Aeae?eueea ineoiiaoieia?/ieo ii?ooaiue aoee a?aei?/ai? o?eueee o oai?eo
c a?oie niinoa?aaeaiiy II. Aei ieo a?aeiineeenue ca?eaiiy, iacae/aei?
?ooe ? iacae/aeia ?aaeoe?y ia i?ae?acieee, iay/aiiyiiae?ai? oaioac??,
?ioaioeeuei?noue, ii?ooaiiy oa?/oaaiiy, iacae/aei? ?ioa?ane.

Oaeei /eiii, ineoiiaoieia?/i? iniaeeaino?, ye? ie niinoa??aaee o oai?eo
c a?oi II ? AI, a?ae??ciythoueny niaoeeo?/i?noth ? iiaeooue aooe
aeei?enoai? ye ae?aaiinoe/i? e?eoa??? caoai?thaaiiy. Oaeiae iayai?noue
iniaeeai? ineoiiaoieia?/ii? neiioiiaoeee o oai?eo c a?oi II ? AI
aeicaiey? c?iaeoe aeniiaie i?i nai???aei?noue ?o iiceiai? i?aai?caoe??.
Oae, ii?ooaiiy aeni?aneaii? ooieoe?? iiae (oao?- ? aoieae??,
ia?naaa?aoe??), a?ia?aeoeai?noue, ii?ooaiiy oaaae, iyai?noue iacae/aeieo
?oo?a na?ae/eoue i?i ia?aaaaeia o?aaeaiiy eiaieo a?aeae?e?a iiceo.

O 11 c 14 oai?eo c a?oie niinoa?aaeaiiy II aoee aeine?aeaeai?
?ioaeaeooaeuei? ooieoe?? c aeei?enoaiiyi aaeaioiaaiiai aeey iaoeaioe?a
Oe?a?ie iaoiaea Aaenea?a. sse iiaeia iiaa/eoe a oaaeeoe? 4 o oai?eo
oe??? a?oie ia a?aei?io a?ae oai?eo eiio?ieueii? a?oie a?aei?/aeiny
ia?aaaaeaiiy iieaciee?a aa?aaeueiiai ?ioaeaeoo, ui na?ae/eoue i?i
a?aeiinia caa?aaeaiiy ooieoe?e o?i’yii-iioeee/ieo a?aeae?e?a iiceo.
A?aeiinii iecuee? ioe?iee a noaoanoao “caaaeueia oyio/?noue”,
a?eoiaoe/iiio, “anoaiiaeaiiy iine?aeiaiino? ea?oeiie” oa «eiaeoaaiiy»
na?ae/aoue i?i i?iaeaie oi?ioaaiiy i?ia?aie ae?e oa eiio?ieth ca ?o
aeeiiaiiyi, ui ? i?ioeanaie noeoeaneaiiai (iine?aeiaiiai) ieneaiiy,
iia’ycaiiai c ooieoe?yie eiaieo aeieae iiceo. Oea ua ?ac i?aeoaa?aeaeo?
aeniiaie i?i ia?aaaaeia o?aaeaiiy eiaieo a?aeae?e?a iiceo o oai?eo c
neiae?iiii Ia?o?ia-Aaea.

Oaaeeoey 4 Ii??aiyeueiee aiae?c ?ioaeaeooaeueieo ooieoe?e o oai?eo c
a?oie niinoa?aaeaiiy II ? eiio?ieueii? a?oie

Iacae noaoano?a Iieacieee (a%)A?oia IIEiio?ieueia a?oiaCaaaeueia
?ioi?iiaai?noue6,45,8Caaaeueia
oyio/?noue4,07,1A?eoiaoe/iee2,86,5Noiae?noue ?
a?aei?ie9,28,6I?iaeiaaeaiiy oaaeeoe? 4

A?aeoai?aiiy oeeo?iaeo ?yae?a9,87,5Caaa?oaiiy
ea?oeiie7,511,6Anoaiiaeaiiy iine?aeiaiino? ea?oeiie4,49,3Neeaaeaiiy
o?ao?5,14,9Eiaeoaaiiy1,75,5Eaa??eiou9,711,5Aa?aaeueiee eiao?oe??io
?ioaeaeoo65,469Iaaa?aaeueiee eiao?oe??io ?ioaeaeoo5973,2Caaaeueiee
eiao?oe??io ?ioaeaeoo60,269,6

Aeai? oaaeeoe? 5 na?ae/aoue i?i oa, ui i?ae eiao?oe??ioii ?ioaeaeoo
oai?eo c a?oie niinoa?aaeaiiy II ? nooiaiai aeenieanoe/iino? oaiioeio
(e?euee?noue oaiioei?/ieo iciae) aoea aeyaeaia a?ae’?iia ei?aeyoe?y
(eiao?oe??io ei?aeyoe?? (r) = -0,97). *ei ieae/ee ?ioaeaeo oai?eo, oei
a?eueoa o ieo oaiioei?/ieo aiiiae?e.

Oaaeeoea 5 ?acoeueoaoe aeine?aeaeaiue ?ioaeaeooaeueieo iieaciee?a,
nooiaiy aeenieanoe/iino? oaiioeio ? iieaeoey?ii-aaiaoe/ieo ci?i o
oai?eo c a?oie II

Oai?eeA?e

ia ii-iaio

ianoaae.IQAa?aaeue-iee IQIaaa?-aaeueiee IQE?euee?noue oaiioe-i?/ieo
iciae?ici?? iaeano? NGG-iiaoi??a (oii)
A978807862,5E676787562,5O5367726876-9A1666756082-3-3,5E146268648Aeaeaoe?
yO1460665882,0I1955595782,5A1666756082,5I?iaeiaaeaiiy oaaeeoe? 5

E654595494-5N12455244103,0O8455244102,5A1930—132,8I1130—132,7A1230—14
7,0

Caaaeyee aeaiei oaaeeoe? 5 aoei anoaiiaeaii, ui i?ae nooiaiai
?ioaeaeooaeueiiai cieaeaiiy oa ?ici??ii iaeano? CGG-iiaoi??a ia
a?aei?/a?oueny ei?aeyoe?y (r=0,01).

O 7 n?i’yo, a yeeo o i?iaaiae?a aoea anoaiiaeaia iayai?noue aeniain?? a
aai? FMR1, aoa i?iaaaeaiee aiae?c NGG-iaeano? aaio o iaoa??a ? nanoa?
oai?eo. Aeine?aeaeaiiy iieacaee, ui on? iaoa?? i?iaaiae?a iaee iaeei
ii?iaeueiee aeaeue, a ?ioee c i?aiooaoe??th (?ici?? CGG-?ina?oe?? aei
1,8 oii). Oaeei /eiii a i?ioean? oniaaeeoaaiiy o i?iaaiae?a e?euee?noue
o?eieao?a ca?eueoeeanue a?ae i?aiooaoe?? aei iiaii? iooaoe??.

Aiae?c NGG-iaeano? aaio o 3-o nean?a ae?ii/i? noao? c
iaii??aeiaieo n?iae oaeiae aeyaea iaeei ii?iaeueiee aeaeue, a ?ioee c
i?aiooaoe??th (aeea.oaaeeoeth 6).

Oaaeeoea 6

?acoeueoaoe iieaeoey?ii-aaiaoe/iiai, oaiioei?/iiai ? iaoiineoieia?/iiai
ianoaaeaiue iaoa??a oa nean?a ae?ii/i? noao? oai?eo c a?oie II

AE?iea-iin?e

i?aiooaoe???ici?? CGG-?ina?oe?? Iayai?noue oaiioei?/ieo i?iya?aIQ
caaaeueiee

(a
%)A(nano?a)1-1,8+68A(nano?a)1-1,5+84A(iaoe)1-1,489A(iaoe)1-1,490I(nano?a
)1-1,491(iaoe)1-1,491I(iaoe)1-1,393E(iaoe)1-1,394N(iaoe)1-1,298A(iaoe)1-
1,2100 sse iiaeia iiaa/eoe c oaaeeoe? 6 i?ae ?ici??ii i?aiooaoe?? a aai?
FMR1 oa ?ioaeaeooaeueiei ??aiai ae?iie a?aei?/a?oueny a?ae’?iia
ei?aeyoe?y (r=-0,96) — /ei iaioa CGG-?ina?oe?y, oei aeuee eiao?oe??io
?ioaeaeoo iin?eie i?aiooaoe??. Oaiioei?/i? i?iyae a?aei?/athoueny
o?eueee o ae?iie c iaea?eueoei ?ici??ii i?aiooaoe??.

Oaeei /eiii, ?acoeueoaoe aeine?aeaeaiue aeicaieythoue caeeth/eoe, ui o
oai?eo c neiae?iiii Ia?o?ia-Aaea aoa aeyaeaiee ee?i?/iee iie?ii?o?ci
(iayai?noue e?eueeio ee?i?/ieo oi?i c oa?aeoa?iei eiiieaenii
oaiioei?/ieo i?iya?a), oa aaiaoe/ia aaoa?iaaii?noue (??ci?
iieaeoey?ii-aaiaoe/i? ci?ie o oai?eo c ??cieie ee?i?/ieie oi?iaie).

AENIIAEE

1. Neiae?ii Ia?o?ia-Aaea oa?aeoa?eco?oueny ee?i?/iei iie?ii?o?ciii,
oiaoi i?iyaey?oueny o e?eueeio (ye i?i?ioi o aeaio) ee?i?/ieo oi?iao.

2. A iniia? aeyaeaiiai ee?i?/iiai iie?ii?o?cio eaaeeoue ?noeiia
aaiaoe/ia aaoa?iaaii?noue (a?aei?ii?noue iieaeoey?ii-aaiaoe/ieo ci?i o
oai?eo c ??cieie ee?i?/ieie oi?iaie).

3. O oai?eo c ia?oith ee?i?/iith oi?iith (a?oia “iiaia iooaoe?y”)
niinoa??aathoueny iaai? iieaeoey?ii-aaiaoe/i? ci?ie (ianoaa?eue-i?noue a
CGG-iaeano? aaio FMR1) oa niaoeeo?/iee eiiieaen oaiioei?/ieo iciae
(aeiaaa iaee//y, i?n n aecueiaiaeaeiei e?i/eeii, ieanea na?aaeiy o?aoeia
iaee//y, iae?ii?o?ae?ci, a?ia??ooii?noue noaeia?a, /ano? io?oe).

4. Aoea aeyaeaia a?ae’?iia ei?aeyoe?y i?ae ??aiai ?ioaeaeoo ? nooiaiai
aeenieanoe/iino? oaiioeio o oai?eo c ia?oith ee?i?/iith oi?iith.

5. Aeey oai?eo, a?aeianaieo aei ae?oai? ee?i?/ii? oi?ie (a?oia
“a?aenooi?noue iooaoe??”), oa?aeoa?ieie iciaeaie ? eaie?noue O-o?iiiniie
o ?aeii? Oq27-28, a?aenooi?noue iooaoe?e o aai? FMR1 oa niaoeeo?/i?
oaiioei?/i? i?iyae: aioeiiiaiei?aeiee ?ic??c i/ae, ianoici?noue iaee//y
oa iaa?yee iia?e.

6. Ineoiiaoieia?/ia ea?oeia o oai?eo ia iaeaea? ee?i?/i? oi?ie neiae?iio
Ia?o?ia-Aaea oa?aeoa?eco?oueny aooeciii, a?ia?aeoeai?noth, ii?ooaiiyie
oaaae, niaoeeo?/ieie ?iceaaeaie iiae, aiioe?iiaeueieie ci?iaie,
iaaeinoaoi?oth noeoeaneaieo i?ioean?a ieneaiiy, ia?aaaaeaiiyi
aa?aaeueiiai ?ioaeaeoo, ui na?ae/eoue i?i a?eueo cia/ia o?aaeaiiy eiaieo
a?aeae?e?a iiceo.

7. O ae?iie-iin?eie i?aiooaoe?? a NGG – iaeano? aaio FMR1 aeyaeaia
a?ae’?iia ei?aeyoe?y i?ae ?ici??ii i?aiooaoe?? ? eiao?oe??ioii
?oaeaeooaeueiiai ?icaeoeo.

8. Aeey aeeoa?aioe?eii? ae?aaiinoeee ? i?io?eaeoeee neiae?iio
Ia?o?ia-Aaea iaiao?aeia eiiieaenia ianoaaeaiiy, yea aeeth/a? aiae?c
oaiioeio, iaoiineoieia?/ia oanooaaiiy, oeeoiaaiaoe/iee ?
iieaeoey?ii-aaiaoe/iee aiae?c.

IA?AE?E I?AOeUe, IIOAE?EIAAIEO CA OAIITH AeENA?OAOe??

1.A?oiaa I.A., Aeaieaeiaa ?.A., Ae/eiaa A.I., Ai?naiiaa N.A.,
Aoae??anueea O.?. Ee?i?ei-aaiaoe/i? aniaeoe ?icoiiai? a?aenoaeino?,
ca’ycaii? c eaieith O-o?iiiniiith // Oeeoieiaey e aaiaoeea.- 1992.-
O.26.- ?6.- N.64-71.

2.Aa?aiia A.N., Anaaa I.A., ?aeeoaaa C.A., Eoeaoia I.I., Ia?ei/aaa A.N.,
Au/eiaa A.I., Coeei A.Ae., Eaaeauaaa A.A., Aaoa?eianeee A.A.
Iieaeoey?iay aeeaaiinoeea neiae?iia o?aaeeueiie O-o?iiiniiu (neiae?ii
Ia?oeia-Aaeea) o aieueiuo ioa/anoaaiiuo iiioeyoeee // Aaiaoeea.- 1993.-
O.29.- ?6 – N.1026-1034.

3.Iaey?/oe N.A., Eeaoeoe E.A., Au/eiaa A.I., E?aa/aiei N.A. Iieeii?oeci
o?eioeeaioeaeiuo CGG-iiaoi?ia aaia FMR1 o caei?iauo aeaiuei e iaoa?ae
aieueiuo n neiae?iiii Ia?oeia-Aaeea ec Oe?aeiu // Aeiiieeia?u e eeaoea.-
1995.- O.11.- N6.- N.104-108. 4.Iaey?/oe N.A., Au/eiaa A.I., O.Ee,
Aa?oaeaoeeee A., Eeaoeoe E.A. Neo/ae niiioaiiie aeaeaoeee a aaia FMR1 o
aieueiiai n neiae?iiii Ia?oeia-Aaeea // Oeeoieiaey e aaiaoeea.- 1997.-
O.31.- ?1.- N.54-57.

5. Au/eiaa A.I., Iaey?/oe N.A., Eeaoeoe E.A. Eeeie/aneee e
iieaeoey?ii-aaiaoe/aneee aiaeec neiae?iia O-eiieie o?iiiniiu //
Oeeoieiaey e aaiaoeea.- 1999.- O.33.- ?4.- N.70-76.

6.Au/eiaa A.I., Aoeaoiaa E.A.Aa?eaaaeueiinoue eeeie/aneeo i?iyaeaiee
neiae?iia O- eiieie o?iiiniiu // Iaoa?eaeu 2-ai Ananithciiai nuacaea
iaaeeoeeineeo aaiaoeeia.- Aeia-Aoa.- 1990.- N.64.

7.Ae/eiaa A.I., Iaey?/oe N.A., E?aoeoeue E.A., Aa?oaeaoeueeee A.
Aeaeaoe?y aaia FMR1 o oeii/eea c oeiiaei oaiioeiii neiae?iio
O-o?aa?eueiino? // Iaoa??aee II c’?caeo iaaee/ieo aaiaoee?a Oe?a?ie.-
Euea?a.- 1995.- N.99.

8. Iaey?/oe N.A., Ae/eiaa A.I., E?aoeoeue E.A., Aa?oaeaoeueee A.
Iie?ii?o?ci aaia FMR1 o n?i’yo c neiae?iiii Ia?o?ia-Aaea // Iaoa??aee II
c’?caeo iaaee/ieo aaiaoee?a Oe?a?ie.- Euea?a.- 1995.- N.100.

9.Iaey?/oe N.A., Ae/eiaa A.I., E?aoeoeue E.A. Aea/aiiy ianoaa?eueiino?
CGG-iiaoi??a a ?iaeeiao c aenieei ?eceeii neiae?iia Ia?o?ia-Aaea oa
oi?a? Aaio?iaoiia // Iaoa??aee iaoeiai-i?aeoe/ii? eiioa?aioe?? “No/aniee
noai iaaee/ii? aaiaoeee a Oe?a?i?”.- Ee?a.- 1999.- N.100.

Ae/eiaa A.I. Ee?i?/iee iie?ii?o?ci oa aaiaoe/ia aaoa?iaaii?noue
neiae?iio Ia?o?ia-Aaea. — ?oeiien.

Aeena?oaoe?y ia caeiaoooy iaoeiaiai nooiaiy eaiaeeaeaoa iaaee/ieo iaoe
ca niaoe?aeuei?noth 03.00.15 – aaiaoeea (iaaee/i? iaoee).- Oe?a?inueeee
iaoeiaee a?a??i?/iee oeaio? IIC Oe?a?ie, Ee?a, 1999.

Aeena?oaoe?y i?enay/aia aea/aiith ee?i?/iiai iie?ii?o?cio neiae?iio
Ia?o?ia-Aaea. Anoaiiaeaii, ui neiae?ii i?iyaey?oueny ye i?i?ioi o aeaio
ee?i?/ieo oi?iao, ye? oa?aeoa?ecothoueny niaoeeo?/iei eiiieaenii
oaiioei?/ieo ? ineoiiaoieia?/ieo iciae. Iieacaii, ui a iniia? aeyaeaiiai
ee?i?/iiai iie?ii?o?cio eaaeeoue ?noeiia aaiaoe/ia aaoa?iaaii?noue
(a?aei?ii?noue iieaeoey?ii-aaiaoe/ieo ci?i i?e ??cieo ee?i?/ieo oi?iao
neiae?iio). Aia?oa i?iaaaeaiee aiae?c ii?ooaiue ineo?/ieo ooieoe?e o
oai?eo aeicaieea aeyaeoe ia?aaaaeia o?aaeaiiy o ieo eiaieo a?aeae?e?a
iiceo. Ai?iaaaeaeai? a i?aeoeeo iniiai? ?acoeueoaoe ?iaioe aeicaieyoue
i?aeaeueoe aoaeoeai?noue ae?aaiinoeee ? i?io?eaeoeee neiae?iio
Ia?o?ia-Aaea.

Eeth/ia? neiaa: neiae?ii Ia?o?ia-Aaea, ee?i?/iee iie?ii?o?ci, aaiaoe/ia
aaoa?iaaii?noue, iieaeoey?ii-aaiaoe/i? ci?ie, eiiieaen oaiioei?/ieo ?
ineoiiaoieia?/ieo iciae.

Bychkova A.M. The clinical polymorfism and genetical geterogennity of
the Martin-Bell syndrome.- Manuscript.

The thesis for a candidate’s degree by speciality 03.00.15 — genetics
(medical sciences).- Ukrainian Scientific Hygienic Centre, Kyiv, 1999.

Ohe dissertation is devoted to studing of the clinical polymorfism of
the Martin-Bel syndrome. It is proved, that syndrome appears in two
clinical forms, wich are characterised by the specyfic complex of the
phenotypical and psychopathological features. It was shown, that in the
basis of the experienced clinical polymorfism is the true genetical
geterogennity (different clinical forms result correspondent
molecular-genetical changes).The analysis of mental functions was
carried out. It allowed to assume, that patients had the mainly damage
of frontal lobes of the brain. The adoption of the maih results of the
work in the practice will increase the efficiency of the diagnostics and
prophylaxis of the Martin-Bell syndrome.

Key words: Martin-Bell syndrome, clinical polymorfism, genetical
geterogennity, molecular-genetical changes, phenotypical and
psychopathological features.

Au/eiaa A.I. Eeeie/aneee iieeii?oeci e aaiaoe/aneay aaoa?iaaiiinoue
neiae?iia Ia?oeia-Aaeea.- ?oeiienue.

Aeenna?oaoeey ia nieneaiea o/aiie noaiaie eaiaeeaeaoa iaaeeoeeineeo iaoe
ii niaoeeaeueiinoe 03.00.15 – aaiaoeea (iaaeeoeeineea iaoee).-
Oe?aeineee iao/iue aeaeaie/aneee oeaio? IC Oe?aeiu, Eeaa, 1999.

Iicieiae/aneay aeeaaiinoeea ianeaaenoaaiiuo neiae?iiia,
nii?iaiaeaeathueony oinoaaiiie ionoaeinoueth, yaeyaony eneeth/eoaeueii
aaaeiie i?iaeaiie e eiaao ia?iiiia cia/aiea aeey i?ioeeaeoeee yoie
iaoieiaee. Neiae?ii I?oeia-Aaeea (NIA) — iaeaieaa ?ani?ino?aiaiiay
ianeaaenoaaiiay oi?ia oinoaaiiie ionoaeinoe n iiiiaaiiui oeiii
ianeaaeiaaiey.

Oeaeueth aeenna?oaoeeiiiiai enneaaeiaaiey auei ?ac?aaioaoue e?eoa?ee
aeeooa?aioeeaeueiie aeeaaiinoeee ?acee/iuo oi?i neiae?iia Ia?oeia-Aaeea.

A ?aaioa auee i?eiaiaiu eeeieei-aaiaaeiae/aneee, oeeoiaaiaoe/aneee,
iieaeoey?ii-aaiaoe/aneee iaoiaeu, eniieueciaaeinue iaoiineoieiae/aneia
oanoe?iaaiea aieueiuo.

Aeey auiieiaiey ?aaiou auei ioia?aii 53 i?iaaiaea ioaeneiai iiea a
aic?anoa io 3-o aei 53-o eao n iiaeic?aieai ia neiae?ii Ia?oeia-Aaeea.
Anai aieueiui auei i?iaaaeaii oeeoiaaiaoe/aneia e
iieaeoey?ii-aaiaoe/aneia ianeaaeiaaiea. I?e iieaeoey?ii-aaiaoe/aneii
aiaeeca o 13 i?iaaiaeia auei auyaeaii oaaee/aiea eiee/anoaa NGG-eiiee
(250-2500), /oi niioaaonoaiaaei iieiie iooaoeee a aaia FMR1, a o 1-ai
aeaeaoeey a CGG-iaeanoe yoiai aaia. Yoe 14 aieueiuo ninoaaeee a?oiio
iaaethaeaiey «iieiay iooaoeey» (II). O 12 aieueiuo ec yoie a?oiiu i?e
oeeoiaaiaoe/aneii ianeaaeiaaiee auea auyaeaia eiieinoue a ?aeiia Xq27.
Yoio aea oeeoiaaiaoe/aneee ia?ea? aue iaia?oaeai aua o 13 aieueiuo, o
eioi?uo ia ioia/aeenue iooaoeee a aaia FMR1. Yoe aieueiua ninoaaeee
a?oiio iaaethaeaiey «ionoonoaea iooaoeee» (II). Aieueiua n iaaaoeaiuie
?acoeueoaoaie eae iieaeoey?ii-aaiaoe/aneiai, oae e oeeoiaaioe/aneiai
aiaeeca ninoaaeee a?oiio «iaaaoeaiua ?acoeueoaou»(I?).

I?e oaiioeie/aneii aiaeeca iaaethaeaaiuo aieueiuo e aunieieioi?iaoeaiui
i?eciaeai, oa?aeoa?iui aeey a?oiiu II, auee ioianaiu iae?ii?oeaeeci, iin
n eethaiaeaeiui eii/eeii, /anoua ioeou, naycaiiua n iniaui no?iaieai
aanoaoeaaie o?oau. Aeinoiaa?ii /aua a yoie a?oiia ii n?aaiaieth n
ae?oaeie a?oiiaie ano?aoeeenue oaeeeiaiiia eeoei, oieiuaiea n?aaeiae
o?aoe eeoea e i?ieain ieo?aeueiiai eeaiaia. Oaiioei yoeo aieueiuo
oa?aeoa?eciaaeny iniaui eiiieaenii i?eciaeia, eioi?ue ii?aaeaeye eo
ii?o?aoiia noiaenoai. Ia iniiaa yoiai iniaiai oaiioeia e ?acoeueoaoia
eaai?aoi?iuo enneaaeiaaiee auea auaeaeaia ia?aay eeeie/aneay oi?ia NIA,
eioi?ay niioaaonoaiaaea a?oiia iaaethaeaiey II. Aeey a?oiiu iaaethaeaiey
II aunieieioi?iaoeaiuie i?eciaeaie ieacaeenue aioeiiiaieieaeiue ?ac?ac
aeac, ianoiciinoue eeoea e ioa/iinoue aae. Ia iniiaa yoie a?oiiu auea
auaeaeaia aoi?ay eeeie/aneay oi?ia NIA.

I?e eco/aiee ineoe/aneiai noaoona e iniaaiiinoae iiaaaeaiey auei
iaia?oaeaii, /oi o aieueiuo n ia?aie eeeie/aneie oi?iie neiae?iia
Ia?oeia-Aaeea (a?oiia II) aeinoiaa?ii /aua ano?aoeeenue aooeci,
yiioeeiiaeueiua ia?ooaiey, iaoieiaey ?a/e (oaoeeaeey, yoieaeey,
ia?naaa?aoeee), aeia?aeoeaiinoue, iaaeinoaoi/iinoue aieiaiey,
a?aaeiiiaeiaiua oaioacee, eioaioeeueiinoue. O aieueiuo ni aoi?ie
eeeie/aneie oi?iie ano?aoeeenue oaeea aea ia?ooaiey, ii a iaiueoae
noaiaie.

I?e enneaaeiaaiee eioaeeaeooaeueiuo ooieoeee o aieueiuo n ia?aie
eeeie/aneie oi?iie neiae?iia Ia?oeia-Aaeea auei auyaeaii i?aiaeaaeaiea
iieacaoaeae aa?aaeueiiai eioaeeaeoa, /oi aiai?eo ia ioiineoaeueiie
nio?aiiinoe oaiaiii-caouei/iuo ioaeaeia iicaa. Auyaeaiiua aea a yoie
a?oiia ioiineoaeueii ieceea iieacaoaee ii oeaeai, naycaiiui n
oi?ie?iaaieai i?ia?aiiu aeaenoaee naeaeaoaeuenoaotho i iaaeinoaoi/iinoe
i?ioeannia noeoeanneaiiai iuoeaiey e, neaaeiaaoaeueii i i?aeiouanoaaiiii
ii?aaeaiee o ieo eiaiuo ioaeaeia iicaa.

I?e enneaaeiaaiee CGG-iaeanoe aaia FMR1 o iaoa?ae e nanoa? i?iaaiaeia ec
a?oiiu II auei iieacaii, /oi ana iaoa?e e o?e nano?u eiaee iaeei
ii?iaeueiue aeeaeue, a ae?oaie — n i?aiooaoeeae.

Oaeei ia?acii, auei onoaiiaeaii, /oi neiae?ii Ia?oeia-Aaeea i?iyaeyaony
eae ieieioi a aeaoo eeeie/aneeo oi?iao, eioi?ua oa?aeoa?ecothony
niaoeeoe/aneei eiiieaenii oaiioeie/aneeo e ineoiiaoieiae/aneeo /a?o.
Iieacaii, /oi a iniiaa auyaeaiiiai eeeie/aneiai iieeii?oecia eaaeeo
enoeiiay aaiaoe/aneay aaoa?iaaiiinoue (?acee/iua
iieaeoey?ii-aaiaoe/aneea eciaiaiey i?e ?aciuo eeeie/aneeo oi?iao).

Aiaae?aiea a i?aeoeeo iniiaiuo ?acoeueoaoia ?aaiou iicaieeo iiauneoue
yooaeoeaiinoue aeeaaiinoeee e i?ioeeaeoeee neiae?iia Ia?oeia-Aaeea.

Eeth/aaua neiaa: neiae?ii Ia?oeia-Aaeea, eeeie/aneee iieeiioeci,
aaiaoe/aneay aaoa?iaaiiinoue, iieaeoey?ii-aaiaoe/aneea eciaiaiey,
eiiieaen oaiioeie/aneeo e ineoiiaoieiae/aneeo i?eciaeia.

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