肢带型肌营养不良一家系致病基因排除性定位  

Exclusive gene mapping on limb-girdle muscular dystrophy in a Chinese kindred

作　　者：任翔[1] 梁直厚[2] 姚淇[1] 刘木根[1] 

机构地区：[1]华中科技大学生命科学与技术学院,湖北武汉430074 [2]华中科技大学同济医学院附属协和医院,湖北武汉430022

出　　处：《华中科技大学学报（自然科学版）》2005年第9期124-127,共4页Journal of Huazhong University of Science and Technology(Natural Science Edition)

基　　金：国家高技术研究发展计划重大专项子课题(2002BA711A07B);国家自然科学基金资助项目(30470982);科技部十五国家科技攻关项目(2004BA720A02);华中科技大学博士后科研基金资助项目.

摘　　要：为了定位一个常染色体显性遗传肢带型肌营养不良家系的致病基因(ADLGMD),采用13个荧光微卫星标记对收集到的一个包括4代33人的ADLGMD家系进行连锁分析,所选择的标记覆盖了3个已知ADL-GMD致病基因位点和4个已报道的致病基因定位区段.通过Linkage 5.1软件包计算连锁概率,各位点连锁分析所得的LOD值均小于-3,显示该家系致病基因与这7个位点均不连锁.该家系的肌营养不良症致病基因不在已知的位点内,很可能是一个新致病基因.To study the relationship between the autosomal dominant limb-girdle muscular dystrophy （ADLGMD） gene loci and ADLGMD in a Chinese kindred, twenty-three normal persons and 10 patients in a ADLGMD family were recruited, Genome scan method based on fluorescence labeled microsatellite markers with PCR （Polymerase Chain Reaction） system was used to identify locus responsible for ADLGMD in the family. Thirteen microsatellites on chromosome 1, 3, 4, 5, 6 and 7 covering 7 ADLGMD loci were used as genetic markers, Linkage analysis using Linkage 5.1 was performed, The LOD score was 〈 - 3 in all 13 microsatellites in the 6 chromosomes, indicating that there was no linkage between these markers and ADLGMD related genes/loci in this kindred, The ADLGMD related gene in these kindred is located on chromosomes region other than the known ADLGMD loci, ADLGMD in the kindred may be resulted from a new gene.

关 键 词：肢带型肌营养不良 常染色体显性 连锁分析 荧光微卫星 

分 类 号：R394[医药卫生—医学遗传学]