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Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 29(3): 302-6, 2007 Jun.
Artigo em Chinês | MEDLINE | ID: mdl-17633452

RESUMO

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 (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. CONCLUSION: The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.


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Ictiose Vulgar/genética , Feminino , Proteínas Filagrinas , Humanos , Masculino , Linhagem
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