The structure and diversity of hereditary pathology in Sakha Republic (Yakutia)

被引：7
|
作者：
Tarskaia, LA
Zinchenko, RA
Elchinova, GI
Egorova, AG
Korotov, MN
Basova, EV
Prokopeva, AM
Sivtseva, EN
Nikolaeva, EE
Banshikova, ES
Samarkina, MV
Sannikova, AN
Danilova, GI
Jhelobtsova, AF
Danilova, AP
Popova, GN
机构：
[1] Russian Acad Sci, Inst Mol Genet, Moscow 123182, Russia
[2] Russian Acad Med Sci, Med Genet Res Ctr, Moscow 115478, Russia
[3] Minist Hlth Sakha Republ Yakutia, Yakutsk 677011, Republic Of Sak, Russia
[4] Republican Ctr Urgent Med Care, Yakutsk 677005, Republic Of Sak, Russia
[5] Natl Med Ctr, Yakutsk 677010, Republic Of Sak, Russia
[6] Yakutia Republican Ophthalmol Hosp, Yakutsk 677005, Republic Of Sak, Russia
[7] Acad Sci Sakha Republ Yakutia, Inst Hlth, Yakutsk 677010, Republic Of Sak, Russia
[8] Yakutia State Univ, Yakutsk 677013, Republic Of Sak, Russia
来源：
RUSSIAN JOURNAL OF GENETICS | 2004年 / 40卷 / 11期
基金：
俄罗斯基础研究基金会;
关键词：
D O I：
10.1023/B:RUGE.0000048669.22362.1c
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The diversity of Mendelian hereditary pathology has been studied in Sakha Republic ( Yakutia). The sample comprised 1 000 700 subjects, including 363 316 Yakuts, 14 428 Evenks, 8668 Evens, 550 263 Russians, and 64 025 subjects from other ethnic groups. Fifty-one autosomal dominant ( AD) diseases, including five diseases with frequencies of 1 : 50 000 or higher; 40 autosomal recessive (AR) diseases, including eight diseases with frequencies of 1 : 50 000 or higher in the Yakut population; and five X-linked diseases have been detected.
引用
收藏
页码：1264 / 1272
页数：9
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