非综合征性耳聋一家系的基因定位  

Gene mapping of a nonsyndromic hearing impairment family

作　　者：程琳[1] 龚瑶琴[1] 刘奇迹[1] 陈丙玺[1] 郭辰虹[1] 李江夏[1] 张锡宇[1] 卢勇[1] 高贵敏[1] 周海斌[1] 郭亦寿[1] 

机构地区：[1]山东大学医学院医学遗传学研究所实验畸形学教育部重点实验室,济南250012

出　　处：《中华医学遗传学杂志》2003年第2期89-93,共5页Chinese Journal of Medical Genetics

基　　金：海外青年学者合作研究基金 (30 0 2 80 1 4 )~~

摘　　要：目的　定位 1个一级表亲婚配非综合征性耳聋家系的致病基因 ,为分离该基因奠定基础。方法　先进行X染色体扫查 ,排除致病基因位于X染色体的可能 ;随后采用纯合子定位法 ,进行候选基因分析和常染色体基因组扫查 ;再对提示与致病基因紧密连锁的位点所在区域进一步分析 ,确定致病基因所在区域。结果　确认该家系的非综合征性耳聋为常染色体隐性遗传方式 ,候选基因分析排除 2 5个已知基因是该家系致病基因的可能 ,而常染色体扫查提示致病基因位于D17S12 93附近 ,进一步分析将其定位于D17S185 0和D17S1818之间 5 .0 7cM区域。结论　该家系的致病基因定位于 17q11.2 12的D17S185 0和D17S1818之间 5 .0 7cM区域 ,是新的常染色体隐性遗传非综合征性耳聋致病基因位点。Objective: To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family. Methods: Firstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region. Results: The nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5. 07 cM interval bounded by D17S1850 and D17S1818. Conclusion: The disease gene of the family is mapped to a 5. 07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.

关 键 词：非综合征性耳聋 基因定位 纯合子定位法 

分 类 号：R764[医药卫生—耳鼻咽喉科]