Zinchenko R A, Osetrova A A, Sharonova E I, El'chinova G I
Genetika. 2012 Mar;48(3):381-8.
The results of a genetic epidemiological study of hereditary deafness (HD) in ten raions (districts) of Kirov oblast (administrative region), Russia, are presented. A total of 122 075 people have been examined. Segregation analysis of all families with diagnosed HD has demonstrated a good fit to either the autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. The total prevalence rates of AD and AR HDs, as well as the specific prevalence rates of nonsyndromic and syndromic forms of HD, have been calculated for the population often raions. The HD prevalence rate in Kirov oblast has been found to be 1 : 1043 people (1 : 1453 and 1 : 3699 for the nonsyndromic and syndromic forms, respectively). This value has been found to vary in different raions, which is explained by differences in the genetic subdivision levels of the populations studied; the correlation coefficient between the HD load and random inbreeding (F(ST)) in district populations is r = 0.81 +/- 0.22. The diversity of syndromic hearing disorders is described.
本文展示了对俄罗斯基洛夫州（行政区）十个区遗传性耳聋（HD）进行的遗传流行病学研究结果。总共检查了122075人。对所有已确诊HD的家庭进行的分离分析表明，其与常染色体显性（AD）或常染色体隐性（AR）遗传模式高度吻合。已计算出这十个区人群中AD和AR HD的总患病率，以及HD非综合征型和综合征型的特定患病率。基洛夫州的HD患病率为1:1043人（非综合征型和综合征型分别为1:1453和1:3699）。已发现该值在不同区有所不同，这是由所研究人群的遗传细分水平差异所致；地区人群中HD负荷与随机近亲繁殖（F(ST)）之间的相关系数为r = 0.81±0.22。文中描述了综合征性听力障碍的多样性。
