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Published on: August 15, 2019
[Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris]
Hui-Yong Gong1, Jing Zhang, Zheng-Mao Hu
1National Laboratory of Medical Genetics, Central South University, Changsha 410078, China. gonghuiyong@cnlmg.com
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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