Azadegan-Dehkordi Fatemeh, Ahmadi Reza, Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza
Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Clinical Biochemistry Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Ann Hum Genet. 2019 Jan;83(1):1-10. doi: 10.1111/ahg.12284. Epub 2018 Sep 3.
Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of autosomal recessive nonsyndromic hearing loss worldwide, but important differences exist between various populations. In the present article, two common mutations of the GJB2 gene are compared for ethnic-specific allele frequency, their function, and their contribution to genetic HL in different populations. The results indicated that mutations of the GJB2 gene could have arisen during human migration. Updates on the spectrum of mutations clearly show that frequent mutations in the GJB2 gene are consistent with the founder mutation hypothesis.
听力损失（HL）是全球最常见的出生缺陷和最普遍的感音神经性疾病。它与至少90个基因中的1000多种突变相关。位于非综合征性听力损失和耳聋（DFNB1）基因座（染色体13q11 - 12）的间隙连接β-2蛋白（GJB2）基因突变是全球常染色体隐性非综合征性听力损失的主要原因，但不同人群之间存在重要差异。在本文中，比较了GJB2基因的两种常见突变在不同种族中的等位基因频率、功能及其对遗传性HL的贡献。结果表明，GJB2基因突变可能在人类迁徙过程中出现。突变谱的更新清楚地表明，GJB2基因中的常见突变与奠基者突变假说是一致的。
