云南普洱地区799例新生儿GJB2基因突变分析  

Analysis of GJB2 gene mutation in 799 newborns in Pu′er region of Yunnan province

作　　者：张亚勤 杨涵 龙丹丹 陈怡颖 王金凤 乔宇 戴欢欢 苏洪 ZHANG Yaqin;YANG Han;LONG Dandan;CHEN Yiying;WANG Jinfeng;QIAO Yu;DAI Huanhuan;SU Hong(Reproductive Genetics Center,Pu′er People′s Hospital,Pu′er,Yunnan 665000,China;Department of Ophthalmology,Pu′er People′s Hospital,Pu′er,Yunnan 665000,China)

机构地区：[1]普洱市人民医院生殖遗传中心,云南普洱665000 [2]普洱市人民医院眼科,云南普洱665000

出　　处：《现代医药卫生》2023年第23期3991-3996,共6页Journal of Modern Medicine & Health

基　　金：云南省临床医学中心分中心开放项目(2020LCZXKF-SZ18;2022LCZXKF-SZ14);普洱市人民医院院内科研项目(2020YN03)。

摘　　要：目的 分析云南普洱地区799例新生儿GJB2基因的突变特征。方法 采用聚合酶链反应-碱基序列直接测序方法对799例新生儿足跟血样本进行GJB2基因编码区检测,分析基因多态性分布及各基因型频率、等位基因频率,并采用Arlerquin3.11软件进行Hardy-Weinberg平衡、单倍型及连锁不平衡分析。结果 在799例新生儿样本的GJB2基因2号外显子中,共检测出c.79G>A、c.109G>A、c.341A>G、c.299-300delAT、c.235delC、c.608T>C、c.226C>A、c.571T>C、c.512insAACG、c.550C>T、c.180C>G、c.368C>A 12种基因多态性。经统计总突变携带率为60.83%,其中,c.79G>A、c.341A>G、c.109G>A、c.608T>C 4个位点突变携带率较高,依次为46.06%、36.30%、13.89%、4.51%,其他位点突变携带率均不足1.00%。这12种基因多态性突变符合Hardy-Weinberg平衡定律,共存在22种单倍型,进行连锁不平衡分析发现,c.79G>A与c.341A>G两位点存在显著连锁不平衡(D′=0.987 4,r^(2)=0.674 0)。结论 云南普洱地区新生儿GJB2基因具有丰富的突变类型和突变频率,且总突变携带率较高,为临床检测及遗传咨询提供了支持。Objective To analyze the mutation characteristics of GJB2 gene in 799 neonates in Pu′er region of Yunnan province.Methods The GJB2 gene coding region was detected in 799 neonatal heel blood samples by polymerase chain reaction-base sequence direct sequencing method,and gene polymorphism distribution,genotype frequency and allele frequency were analyzed.Hardy-Weinberg equilibrium,hahatype and linkage disequilibrium were analyzed by Arlerquin3.11 software.Results c.79G>A,c.109G>A,c.341A>G,c.299-300delAT,c.235delC,c.608T>C,c.226C>A,c.571T>C,c.512insAACG,c.550C>T,c.180C>G,and c.368C>A were detected in exon 2 of GJB2 gene in 799 neonatal samples.According to statistics,the total mutation carrier rate was 60.83%,among which,the mutation carrier rates of c.79G>A,c.341A>G,c.109G>A and c.608T>C were 46.06%,36.30%,13.89%and 4.51%,respectively,and the mutation carrying rate of other sites was less than 1.00%.The polymorphic mutations of these 12 genes were consistent with Hardy-Weinberg equilibrium law,and there were 22 hahatypes in total.The linkage disequilibrium analysis showed that there were significant linkage disequilibria at two loci:c.79G>A and c.341A>G(D′=0.9874,r^(2)=0.6740).Conclusion There are abundant mutation types and frequency of GJB2 gene in newborns in Pu′er region of Yunnan province,and the total mutation carrying rate is high,which provides support for clinical detection and genetic counseling.

关 键 词：GJB2基因 遗传性耳聋 新生儿 基因筛查 云南 

分 类 号：R394.5[医药卫生—医学遗传学]