Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris / 中国医学科学院学报

ABSTRACT

<p><b>OBJECTIVE</b>To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).</p><p><b>METHODS</b>Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.</p><p><b>RESULTS</b>A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.</p><p><b>CONCLUSION</b>The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.</p>