纯合子定位法在骨质疏松-假性神经胶质瘤综合征精确定位中的应用  

Application of homozygosity mapping to the fine mapping of the osteoporosis-pseudoglioma syndrome locus

作　　者：龚瑶琴[1] 李江夏[1] 刘奇迹[1] 陈丙玺[1] 郭辰虹[1] 高贵敏[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1期53-55,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金 (39870 4 0 9) ;海外青年学者合作研究基金 (30 0 2 80 1 4 )~~

摘　　要：目的　探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。方法采用聚合酶链反应扩增简单序列长度多态方法 ,在 8个骨质疏松 -假性神经胶质瘤综合征 (osteoporosis-pseudoglioma syndrome,OPS)患者家系中对 OPS候选区的 14个多态位点进行基因型分型 ,通过纯合子分析对 OPS致病基因进行精确定位。结果　将 OPS致病基因候选区域确定在 D11S12 96和 D11S4 136之间 ,该区域约为 1c M。Objective: To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases. Methods: Polymerase chain reaction-single sequence length polymorphism was used to genotype the family members from 8 families with osteoporosis-pseudoglioma syndrome (OPS) for 14 polymorphic loci within candidate region. The OPS candidate region was narrowed by searching for homozygous region in affected. Results: The OPS candidate region was narrowed to a 1 cM interval between D11S1296 and D11S4136. Conclusion: Homozygosity mapping is a powerful method for mapping and narrowing the candidate region of the genes responsible for the rare autosomal recessive diseases.

关 键 词：纯合子定位法 骨质疏松-假性神经胶质瘤综合征 应用 基因定位 

分 类 号：R596.1[医药卫生—内科学] R681[医药卫生—临床医学]