一个中国汉族先天性附耳表型致病基因的定位研究  

Localization of the pathogenic gene of accessory fagus phenotype in a Chinese Han family

作　　者：范志朋[1] 杜娟[1] 刘慧敏[2] 沈岩 王松灵[1] 

机构地区：[1]首都医科大学口腔医学院口腔医学研究所基因治疗分子生物学实验室,北京100050 [2]黑龙江大庆石油管理局龙南医院口腔科 [3]北京协和医科大学基础医学研究所医学分子生物学实验室

出　　处：《北京口腔医学》2010年第5期249-252,共4页Beijing Journal of Stomatology

基　　金：国家自然科学基金(30700962);北京市教育委员会科技发展计划面上项目资助(KM200510025002)

摘　　要：目的定位一个中国汉族先天性面部畸形家系附耳表型的致病基因。方法通过全基因组扫描、连锁分析和单体型分析用微卫星遗传标记在染色体区域定位致病基因。结果全基因组扫描和连锁分析发现,附耳的致病基因可能定位于d18s462～d18s70之间,遗传距离为6.00cM,LODZMAX=1.83(d18s462,θ=0.06);或者d7s2546～d7s559之间,遗传距离为8.94cM,LODZMAX=2.74(d7s2546,θ=0.05)。再经过单体型分析将其致病基因定位在d7s2546～d7s550之间,遗传距离为5.38cM。结论这个中国汉族家系附耳表型的致病基因定位d7s2546～d7s550之间,在染色体的位置为7q36.1～q36.2。Objective To localize the pathogenic gene of accessory fagus phenotype in a Chinese Han family.Methods A five-generation family consisting of 56 individuals with or without accessory fagus phenotype was found in Chinese Han people.Genescan,linkage analysis and haplotype analysis were used to map the candidate gene by microsatellite genetic marker.Results The pathogenic gene was located either between d18s462-d18s70,the heretary distance was 6.00cM,LODZMAX =1.83（d18s462,θ= 0.06）,or located between d7s2546 and d7s550,the hereditary distance was 8.94cM,LODZMAX =2.74（d7s2546,θ=0.05）.Further haplotype analysis narrowed the pathogenic gene between d7s2546-d7s550,the hereditary distance was 5.38cM.Conclusion The pathogenic gene of the accessory fagus phenotype in this family was located between d7s2546-d7s550 in chromosomes 7q36.1-7q36.2.

关 键 词：附耳 连锁分析 单体型 微卫星 

分 类 号：R394.33[医药卫生—医学遗传学]