Baris I, Köksal V
Department of Molecular Biology and Genetics, Bogazici University, Bebek 80815, Istanbul, Turkey.
Genet Test. 2003 Spring;7(1):63-5. doi: 10.1089/109065703321560967.
Hearing impairment that results from inherited genetic defects occurs in approximately 1/2,000 live births. Mutations in the Connexin-26 gene have been shown to be a major contributor to prelingual, nonsyndromic, autosomal recessive deafness in many populations. The most common mutations in this gene are 35delG, 167delT, 235delC, M34T, and W77X. We describe a nonisotopic, single-tube, polymerase chain reaction (PCR) multiplex system for the detection of these common mutations. The method presented is reliable, simple, and low in cost.
由遗传基因缺陷导致的听力障碍在大约每2000例活产中出现1例。在许多人群中，连接蛋白26基因的突变已被证明是导致语前、非综合征性、常染色体隐性耳聋的主要因素。该基因最常见的突变是35delG、167delT、235delC、M34T和W77X。我们描述了一种用于检测这些常见突变的非同位素单管聚合酶链反应（PCR）多重系统。所提出的方法可靠、简单且成本低。
