先证者
复合杂合度
遗传学
突变
外显子
听力损失
基因
聚合酶链反应
生物
杂合子优势
分子生物学
医学
基因型
听力学
作者
Hao Hu,Desheng Liang,Lingqian Wu,Yong Feng,Fang Cai,Kun Xia,Qian Pan,Zhigao Long,Heping Dai,Jiahui Xia
出处
期刊:PubMed
日期:2005-08-01
卷期号:22 (4): 376-9
被引量:1
摘要
To identify the pathogenic gene for a non-syndromic hearing loss family.Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
科研通智能强力驱动
Strongly Powered by AbleSci AI