广西汉族人群与壮族人群中耳聋易感基因基因型频率的对比

Analysis on the deafness predisposing genes in the People of the Zhuang nationality and the Han nationality in Guangxi

目的研究汉族人群和壮族人群中与耳聋相关的GJB2、GJB3、SLC26A4和线粒体12S r RNA的基因型分布频率。方法选择无亲缘关系的汉族个体和壮族个体进行样本采集。共采集汉族个体1051例,采集壮族个体1037例。采用荧光PCR熔解曲线法检测,检测范围包括GJB2:c.35del G,c.167del T,c.176-191del16bp,c.235del C,c.299-300del AT;GJB3:c.538C>T,c.547G>A;mt DNA:m.961,m.1494C>T,m.1555A>G,m.7444G>A,m.7445A>G;SLC26A4:c.2162 C>T,c.2168A>G,c.919-2A>G,c.1226 G>A,c.1229 C>T,c.1174 A>T,c.1707+5 G>A,c.1975 G>C,c.2027 T>A。结果共检出55个阳性样本,7种突变类型,汉族人群阳性检出率为2.85%,壮族人群阳性检出率为2.41%,其中GJB3的c.538C>T和mt DNA的m.1494C>T在所检测的壮族人群中未检出。讨论所检测的汉族人群和壮族人群在所测基因座的基因型分布频率并无显著性差异,由此可判断广西钦州市内汉族人群和壮族人群在所测基因座的等位基因频率并无显著性差异,民族间融合程度较高。

Objective： To study the mutation frequency of GJB2, GJB3, SLC26A4 and 12S rRNA in the People of the Zhuang nationality and the Han nationality in Qinzhou, Guangxi. Methods： The individuals of the Zhuang nationality and the Han nationality who have no relationship were selected. A total of 1051 individuals in Han nationality and 1037 individuals in Zhuang nationality were selected. The melt curve analysis was used, the target include GJB2： c.35delG, nc.167delT, c.176-191del16bp, c.235delC, c.299-300delAT; GJB3： c.538C〉T, c.547G〉A; mtDNA： m.961, m.1494C〉T, m.1555A〉G, m.7444G〉A, m.7445A〉G; SLC26A4： c.2162C〉T, c.2168A〉G, c.919-2A〉G, c.1226G〉A, c.1229C〉T, c.1174A〉T, c.1707＋5G〉A, c.1975 G〉C, c.2027 T〉A. Results： A totally of 55 positive samples was detected, including 7 mutation types. The positive rate in the people of the Han nationality was 2.85%, and the positive rate in the people of the Zhuang nationality was 2.41%. During the detected mutation types, no individual was found in the Zhuang nationality carrying the GJB3： c.538C〉T and the mtDNA： m.1494C〉T. Conclusions： The frequency of the deafness predisposing gene have no distinctions of the between the people of the Zhuang nationality and the Han nationality in Qinzhou, Guangxi. The degree of integration among the nations Zhuang nationality and the Han nationality in Qinzhou is relatively high.