一遗传性单纯少毛症家系的基因定位

Gene mapping of a hereditary hypotrichosis simplex family

目的:确定一遗传性单纯少毛症家系的致病基因。方法:通过定位候选克隆技术,用ABI公司的商品化微卫星标记,进行全基因组扫描,明确致病基因的区域。结果:在微卫星标记D13S217处得到最高LOD值3.74(重组率θ=0.00)。结论:本研究将该遗传性单纯少毛症家系的致病基因定位于13号染色体上。

Objective： To identify the gene in a pedigree of hereditary hypotrichosis simplex. Methods： The gene was identified by positional cloning or positional candidate cloning technique. Genome- wide scan with microsatellite marker was used to detect the region of disease gene. Results： The maximum two point LOD score of 3.74 at micro-satellite marker D13S217 （θ= 0.00） was obtained. Conclusion：The disease gene is localized in chromosome 13.