伴丘疹性损害的先天性无毛症一例及其基因突变的研究

Abstract

Abstract: Objective To identify the hairless gene mutations in a family of atrichia with papular lesions.Methods Skin biopsies were taken from typical lesions for histopathological examination.Genomic DNA was extracted from blood samples of the family members.Complete encoding sequences of hairless gene Dwere detected by polymerase chain reaction (PCR) and DNA sequencing.Results Compound heterozygous mutations were identified in the patient:G337D in exon 3 and Q498X in exon 4.There was only one of the mutations in his parents and a younger brother.Conclusions G337D and Q498X mutations in hairless gene seem to be responsible for the phenotypes in the patient suffered from atrichia with papular lesions.

Key words: Congenital atrichia, Hairless gene, Mutation

HUANG Wei-ping, YANG Yong, GU Jun, LI Song, XU Zhe, CHEN Ming. Hairless Gene Mutations in a Sporadic Case of Atrichia with Papular Lesions[J].Chinese Journal of Dermatology, 2005, 38(7): 403-405.

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Hairless Gene Mutations in a Sporadic Case of Atrichia with Papular Lesions

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