摘要
对一个母系遗传的“线粒体耳聋”家系，应用ＰＣＲ，ＰＣＲ－ＳＳＣＰ，ＰＣＲ－ＲＦＬＰ，ＰＣＲ产物克隆测序技术对该家系ｍｔＤＮＡ进行了分析，发现该家系全部患者都有ｍｔＤＮＡ１２ＳｒＲＮＡ基因１５５５位点Ａ１５５５Ｇ突变，另外，除此突变位点外，我们还在部分患者中发现了一新的突变位点：ｍｔＤＮＡ１２ＳｒＲＮＡ基因１４３８位点Ａ→Ｇ改变，说明Ａ１５５５Ｇ突变可能是导致该家系耳聋的主要因素之一．
We constructed a non-syndromic matrilineal heredity Deafness pedigree,using PCR amplified the 12SrRNA gene nt1555 of the mitochondrial DNA,combined with PCR-SSCP,PCR-RFLP and sequencing the clone of the PCR product to screen this family.We found an A to G transition at position 1555(A1555G)of the mitochondrial 12 SrRNA from all the patients of this family.Addition to A1555G,we found another mutation at position 1438(A→G)from partial of patients in this Pedigree which showed that these mutation maybe one of major factors in matrilineal inherited deafness of this family.
出处
《南京师大学报（自然科学版）》
CAS
CSCD
1999年第1期68-72,共5页
Journal of Nanjing Normal University(Natural Science Edition)
基金
国家自然科学基金
关键词
母系遗传
耳聋
聚合酶链反应
分子遗传学
Matrilineal nonsyndromic Deafness,Mitochondrial DNA,Point mutation,PCR.
