论文部分内容阅读
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。结论 纯合子定位法在罕见常染色体隐性遗传病基因定位和缩小的致病基因候选区域有重要作用
Objective To investigate the role of homozygote in the precise localization of the causative genes of rare autosomal recessive diseases. Methods A total of 14 polymorphisms of OPS candidate regions in 8 families of patients with osteoporosis-pseudoglioma syndrome (OPS) were amplified by polymerase chain reaction amplification-length polymorphism (PCR-RFLP) Site genotyping, by homozygous analysis of OPS pathogenic genes for precise positioning. Results The OPS virulence gene candidate region was identified between D11S12 96 and D11S4 136 in this region at approximately 1 cM. Conclusion Homozygote localization plays an important role in the selection and location of rare and often pathogenic genes in autosomal recessive disease