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OALib Journal期刊
ISSN: 2333-9721
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遗传  2008 

Mapping of pathogenic genes in two families with auto-somal dominant ichthyosis vulgaris
两个常染色体显性遗传寻常性鱼鳞病家系致病基因的定位

Keywords: 寻常性鱼鳞病,微卫星标记,连锁分析

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Abstract:

To localize the pathogenic genes of autosomal dominant ichthyosis vulgaris, we ascertained two ichthyosis vulgaris families from Hunan Province. Venous blood samples were collected from affected and unaffected family members and genomic DNA was extracted. We then performed genome scan and linkage analysis using microsatellite markers around known ichthyosis vulgaris loci in chromosomes 1 and 10. In family 1, the locus linked to ichthyosis vulgaris was located near D1S498 (1q21), which overlapped with known ichthyosis vulgaris loci. In family 2, however, all known loci for ichthyosis vulgaris were excluded and the new locus remains to be identified.

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