一常染色体显性遗传寻常型鱼鳞病家系致病基因的定位

Mapping of Pathogenic Genes in a Pedigree with Autosomal Dominant Ichthyosis Vulgaris

目的研究一常染色体显性遗传寻常型鱼鳞病家系的致病基因。方法采用基因组扫描方法,利用1号染色体上的微卫星标记对该家系进行连锁分析,然后对候选基因FLG的部分编码区及外显子与内含子交界处进行突变检测。结果在D1S2696得到最大两点连锁LOD值3.46(θ=0),单体型分析将疾病基因定位在D1S2726-D1S305之间约15cM范围内;在FLG基因的外显子非重复序列及部分重复序列未发现与疾病相关的突变。结论该寻常型鱼鳞病家系的致病基因位于D1S2696附近,其致病基因可能是除FLG以外的其他基因。

Objective To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris （Ⅳ）. Methods Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation. Results A maximum two-point Lod score of 3.46 （0 =0） was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1 S305, but no mutation of FLG was found in our Ⅳ patients. Conclusion The pathologic gene of the Ⅳ family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.