Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2011
[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].
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Liu Xia, Xia Li, Wang Jing-xia, Hao Yan-jie, Yang Jing, Liu Feng-qin, Guo Rui
Аннотация
OBJECTIVE: To identify keratin 5 (K5) and keratin 14 (K14) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation.
METHODS: Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.
RESULTS: By DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.
CONCLUSION: Mutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.
METHODS: Genomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls. All the exons of K5 and K14 genes were amplified using polymerase chain reaction (PCR) and directly sequenced.
RESULTS: By DNA sequence analysis, a missense mutation in K5 gene (c.237C>T) was detected. The same mutation was not found in non-affected members from the family and normal controls.
CONCLUSION: Mutation in K5 gene (c.237C>T) may be responsible for the development of disease in this family.