目的分析一个常染色体显性遗传性耳聋家系临床及遗传学表型,并筛查常见耳聋致病基因。方法通过调查问卷、体格检查、听力学检测,完成该湖南籍耳聋家系的临床资料采集,绘制家系遗传图谱,分析其听力学及遗传学特征,对最常见的GJB2,SLC26A4...目的分析一个常染色体显性遗传性耳聋家系临床及遗传学表型,并筛查常见耳聋致病基因。方法通过调查问卷、体格检查、听力学检测,完成该湖南籍耳聋家系的临床资料采集,绘制家系遗传图谱,分析其听力学及遗传学特征,对最常见的GJB2,SLC26A4和12S r RNA共3个耳聋基因八个位点以及线粒体DNA全组序列进行初步筛查。结果该家系共5代,现存家系成员35人,耳聋患者10人,除两人发病较晚,余均为自幼发病,听力曲线呈盆覆型,造成部分言语功能障碍,进展性加重,起初为中频受累,随着年龄的增长,以后逐渐累积高低频,表现为全频听力损失,发展为重度-极重度耳聋。对候选致病基因突变筛查,未发现致病突变。结论该耳聋家系符合常染色体显性遗传规律,进一步将通过新一代测序全外显子测序技术对其致病基因进行探索。展开更多
Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Gen...Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Genetic re-sources, including pedigree information, blood sample, and tissues, etc., are essential materials for finding of thelinked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate ap-proach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been i-dentified. National laboratory of medical genetics of China (NLMG) has initiated the study on genetic resourcescollection, mapping and identification of disease associated gene since 1970s, here we summarize the major find-ings in this area achieved by NLMG.展开更多
基金supported by Scholarship Award for Excellent Doctoral Student granted by Ministry of Education of China and National Basic Research Program of China(2010CB529601&2012CB517902)
文摘目的分析一个常染色体显性遗传性耳聋家系临床及遗传学表型,并筛查常见耳聋致病基因。方法通过调查问卷、体格检查、听力学检测,完成该湖南籍耳聋家系的临床资料采集,绘制家系遗传图谱,分析其听力学及遗传学特征,对最常见的GJB2,SLC26A4和12S r RNA共3个耳聋基因八个位点以及线粒体DNA全组序列进行初步筛查。结果该家系共5代,现存家系成员35人,耳聋患者10人,除两人发病较晚,余均为自幼发病,听力曲线呈盆覆型,造成部分言语功能障碍,进展性加重,起初为中频受累,随着年龄的增长,以后逐渐累积高低频,表现为全频听力损失,发展为重度-极重度耳聋。对候选致病基因突变筛查,未发现致病突变。结论该耳聋家系符合常染色体显性遗传规律,进一步将通过新一代测序全外显子测序技术对其致病基因进行探索。
文摘Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Genetic re-sources, including pedigree information, blood sample, and tissues, etc., are essential materials for finding of thelinked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate ap-proach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been i-dentified. National laboratory of medical genetics of China (NLMG) has initiated the study on genetic resourcescollection, mapping and identification of disease associated gene since 1970s, here we summarize the major find-ings in this area achieved by NLMG.
