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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 determine the related genes of deafness disease. Methods Genomic DNA was extracted from the peripheral blood and fetus amniotic fluid cells of one pregnant woman and one normal boy who had been born with congenital deafness and a normal boy at the age of 21 weeks. The first deafness (The first son of the pregnant woman) tested for mutations in the GJB2 and SLC26A4 genes and then analyzed the relative positions of other members of the family, including the fetus. Results The probands were homozygous for IVS7-2A> G mutation of SLC26A4 gene, heterozygous for 79G> A (V29I), 341A> G (E114G) and 608T> C (I203T) The second son was an IVS7-2A> G mutant heterozygote; the fetus was a IVS7-2A> G wild-type homozygote. Conclusion The mutations of GJB2 and SLC26A4 genes are the related genes of congenital deafness. Prenatal diagnosis can prevent the birth of children with congenital deafness.