Barashkov N A, Dzhemileva L U, Fedorova S A, Maksimova N R, Khusnutdinova E K
Vestn Otorinolaringol. 2008(5):23-8.
The aim of the study was to elucidate the causes of hereditary non-syndromic loss of hearing, a frequent monogene pathology in the Republic of Sakha (Yakutia). A search for mutations in the coding sequence of the connexin 26 gene gap-junction B2 (GJB2) was undertaken in 79 members of 65 unrelated families with the diagnosis of grade III-IV non-syndromic bilateral sensorineural loss of hearing. Five recessive mutations (35delG, V371, 312-326del14, 333-334delAA, R127H) and three polymorphic variants (V271, M34T, E114G) were identified in Yakut patients. Mutations 35delG (41.7%), 312-326dell4 (4.2%), and 333-334delAA (4.2%) were found in Caucasian patients (Russians, Ukrainians, Inguish). Yakuts were carriers of mutations 35delG (2.1%), V371 (2.1%), R127H (1.0%) and sequence variants V271 (6.3%), M34T (1.0%), E114G (1.0%). GJB2 mutations were identified in 50.1% of the Caucasian patients and in 7.2% of the Yakut patients. The low frequency of GJB2 mutations in Yakuts with non-syndromic sensorineural loss of hearing testifies to the presence of mutations of other genes controlling sound perception in this population.
该研究的目的是阐明遗传性非综合征性听力丧失的病因，这是萨哈（雅库特）共和国一种常见的单基因疾病。对65个无亲缘关系家庭的79名成员进行了研究，这些成员被诊断为III-IV级非综合征性双侧感音神经性听力丧失，研究人员对连接蛋白26基因间隙连接B2（GJB2）的编码序列进行了突变搜索。在雅库特患者中鉴定出5种隐性突变（35delG、V371、312-326del14、333-334delAA、R127H）和3种多态性变体（V271、M34T、E114G）。在高加索患者（俄罗斯人、乌克兰人、因古什人）中发现了35delG（41.7%）、312-326dell4（4.2%）和333-334delAA（4.2%）突变。雅库特人是35delG（2.1%）、V371（2.1%）、R127H（1.0%）突变以及序列变体V271（6.3%）、M34T（1.0%）、E114G（1.0%）的携带者。在50.1%的高加索患者和7.2%的雅库特患者中鉴定出GJB2突变。雅库特非综合征性感音神经性听力丧失患者中GJB2突变的低频率表明该人群中存在其他控制声音感知的基因突变。
