Bliumina M G, Moskovkina A G
Genetika. 1982;18(6):1012-7.
Genealogical and genetico-statistical analysis of 639 Moscow families with 696 children suffering from sensorineural deafness was carried out. The patients examined constituted 40% of all the registered cases of hearing loss in children under 16. The study showed that monosymptomatic sensorineural deafness in children was more often of a genetic (62,2%), than of an exogenous (37,8%) origin. 54,2% of children with the disease were born from normal parents and 50,9% of all sporadic cases of sensorineural deafness were caused by genetic factors. In 80,8% of cases, inherited sensorineural hearing loss was transmitted, as an autosomal recessive trait, in 18% - as an autosomal dominant trait and in 1,2% - as a recessive X-linked character. The incidence of recessive sensorineural deafness in children of moscow is 1: 2000, that of dominant hearing loss being 1: 10 000. The total frequency of recessive genes is 0,022; the total frequency of heterozygotes of recessive genes is 0,043.
对639个莫斯科家庭中696名患有感音神经性耳聋的儿童进行了系谱和遗传统计学分析。接受检查的患者占16岁以下儿童所有登记听力损失病例的40%。研究表明，儿童单症状感音神经性耳聋更多是遗传（62.2%）而非外源（37.8%）起源。54.2%的患病儿童出生于正常父母，所有散发性感音神经性耳聋病例中有50.9%是由遗传因素引起的。在80.8%的病例中，遗传性感音神经性听力损失作为常染色体隐性性状遗传，18%作为常染色体显性性状遗传，1.2%作为隐性X连锁性状遗传。莫斯科儿童隐性感音神经性耳聋的发病率为1:2000，显性听力损失的发病率为1:10000。隐性基因的总频率为0.022；隐性基因杂合子的总频率为0.043。
