现代医药卫生2023，Vol.39Issue(23)：3991-3996,6.DOI:10.3969/j.issn.1009-5519.2023.23.007
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
摘要
Abstract
Objective To analyze the mutation characteristics of GJB2 gene in 799 neonates in Pu'er re-gion 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 distri-bution,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'=0.987 4,r2=0.674 0).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 de-tection and genetic counseling.关键词
GJB2基因/遗传性耳聋/新生儿/基因筛查/云南Key words
GJB2 gene/Hereditary deafness/Neonate/Genetic screening/Yunnan分类
医药卫生引用本文复制引用
张亚勤,杨涵,龙丹丹,陈怡颖,王金凤,乔宇,戴欢欢,苏洪..云南普洱地区799例新生儿GJB2基因突变分析[J].现代医药卫生,2023,39(23):3991-3996,6.基金项目
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). （2020YN03）
