1.Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris.
Zheng-mao HU ; Zhi-guo XIE ; Ling-qian WU ; De-sheng LIANG ; Hai-yan ZHU ; Qian PAN ; Zhi-ga LONG ; He-ping DAI ; Jia-hui XIA ; Kun XIA
Acta Academiae Medicinae Sinicae 2007;29(3):302-306
OBJECTIVETo elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).
METHODSLinkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.
RESULTSA 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.
CONCLUSIONThe pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.
Female ; Humans ; Ichthyosis Vulgaris ; genetics ; Male ; Pedigree
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