【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。更多还原

【Abstract】 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.更多还原