摘要
目的确定耳聋疾病的相关基因。方法从1例曾生育过一先天性耳聋男孩和一正常男孩、现孕21周的孕妇及其家庭成员的外周血和胎儿的羊水细胞中抽提基因组DNA,先对此家系中的耳聋先证者(为此孕妇的第1个儿子)进行GJB2和SLC26A4基因的突变检测,然后对家庭中其他成员(包括胎儿)的相关位点进行分析。结果先证者为SLC26A4基因的IVS7-2A>G突变纯合子,GJB2基因的79G>A(V29I)、341A>G(E114G)、608T>C(I203T)3种杂合改变;夫妇二人和其第2个儿子为IVS7-2A>G突变杂合子;胎儿为IVS7-2A>G野生型纯合子。结论GJB2和SLC26A4基因突变是先天性耳聋疾病的相关基因,通过产前诊断的方法可以预防先天性耳聋患儿的出生。
Objective To identify deafness related gene and provide its prenatal diagnosis to avoid deaf fetus delivery. Methods DNA was extracted from amniotic cells in a pregnant woman close to 21 weeks′ gestation, as well as from peripheral blood cells of the pregnant woman, her husband and their two sons. Screening for GJB2 and SLC26A4 gene mutations was firstly performed in the deafness proband (the first son of the couple), and then it was carried out in the fetus and the rest family members. Results The first child of the family, i.e., the proband, was homozygous in the IVS7-2A>G mutation of SLC26A4, the parents and the second child were carriers of the same mutation, while the fetus had a wild-type form. Conclusion It is feasible to identify deafness related genes by screening for GJB2 and SLC26A4 mutation, thus providing correct prenatal diagnosis and avoiding deaf delivery of baby.
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2005年第9期19-22,共4页
Chinese Journal of Obstetrics and Gynecology
基金
国家重点基础研究发展规划资助项目(2001CB510302)
关键词
产前诊断
聋
膜转运蛋白质类
突变
Prenatal diagnosis
Deafness
Membrane transport proteins
Mutations
