Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, 06510 Ankara, Turkey.
Biochem Genet. 2010 Apr;48(3-4):248-56. doi: 10.1007/s10528-009-9314-7. Epub 2009 Nov 26.
Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals carrying GJB2 mutations. Seven different mutations were identified, five of which were previously known (35delG, delE120, R184P, M163V, L90P), the remaining two being novel variants (M34V, L205V). The most common mutation was 35delG followed by delE120. The 35delG mutation was homozygous in 22 cases (14.5%) and heterozygous in 4 cases (2.6%). Compound heterozygosity for 35delG was also observed. The delE120 mutation was found in three patients in homozygous form. A homozygous L90P and heterozygous mutations M163V and M34V were found in single cases.
大多数非综合征型听力损失是由 GJB2 基因突变引起的，研究表明这些突变的形式和频率在很大程度上取决于种族起源。在本研究中，我们旨在描述土耳其 151 例听力损失患者的突变谱。我们对所有患者的 GJB2 整个编码区进行了直接测序。我们发现 35 名（23.2%）个体携带 GJB2 突变。共鉴定出 7 种不同的突变，其中 5 种是先前已知的（35delG、delE120、R184P、M163V、L90P），其余两种是新的变异体（M34V、L205V）。最常见的突变是 35delG，其次是 delE120。22 例（14.5%）为纯合突变，4 例（2.6%）为杂合突变。还观察到 35delG 的复合杂合性。delE120 突变在 3 例患者中为纯合子形式。单个患者发现 L90P 纯合子和 M163V、M34V 杂合子突变。
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