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[Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris]

Zheng-mao Hu¹, Zhi-guo Xie, Ling-qian Wu

¹National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae

|July 19, 2007

Abstract

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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