Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
复制标题
土耳其人群中的连接蛋白 26 (GJB2) 突变：对白种人中 35delG 突变的起源和高频率的影响。
DOI：
10.1007/s004390100507
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发表时间：
2001
期刊：
影响因子：
5.3
通讯作者：
Pandya,A
中科院分区：
文献类型：
--
作者：
Tekin,M;Akar,N;Cin,S;Blanton,SH;Xia,XJ;Liu,XZ;Nance,WE;Pandya,A
连接蛋白26（GJB 2/Cx 26）基因突变是许多高加索人群中超过一半的语前非综合征型隐性耳聋病例的原因。为了确定Cx 26突变作为土耳其人耳聋原因的重要性，我们筛选了11个语前非综合征性耳聋家族，其中7个（64%）被发现携带35 delG突变。我们随后筛选了674名土耳其受试者，他们没有已知的听力损失，发现了12个35 delG杂合子（1.78%; 95%置信区间：0.9%-3%），但没有167 delT突变的例子。为了寻找可能的创始人效应，我们对来自土耳其和美国的样本中携带35 delG突变的染色体进行了紧密连锁的多态性标记，并将等位基因频率与听力受试者进行了比较。数据显示，在这两个人口适度的不平衡。来自土耳其的两个家系的分析表明，既保守和不同的单倍型，这表明可能的创始人的影响和多个起源的35 delG突变。
Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 mutations as a cause of deafness in Turks we screened 11 families with prelingual non-syndromic deafness, seven (64%) of which were found to carry the 35delG mutation. We subsequently screened 674 Turkish subjects with no known hearing loss and found twelve 35delG heterozygotes (1.78%; 95% confidence interval: 0.9%–3%) but no examples of the 167delT mutation. To search for possible founder effects, we typed chromosomes carrying the 35delG mutation for closely linked polymorphic markers in samples from Turkey and United States and compared the allele frequencies with those of hearing subjects. The data showed a modest degree of disequilibrium in both populations. Analyses of two pedigrees from Turkey demonstrated both conserved and different haplotypes, suggesting possible founder effects and multiple origins of the 35delG mutation.