Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2010
[The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I].
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Yang Lijia, Li Ming, Lai Meiling, Ni Jingjing
Аннотация
OBJECTIVE: To identify the mutation in the keratin 6A(K6A) gene in a pedigree with pachyonychia congenita type I (PC-I).
METHODS: Blood samples were obtained from 2 affected, 3 unaffected members in this family, and 100 unrelated healthy individuals. Mutation detection was carried out by PCR amplification of the K6A gene and direct DNA sequencing.
RESULTS: A heterozygous mutation of T--> C transition at position 521 in exon 1 of the K6A gene was found in the 2 affected, but not in the unaffected members and 100 unrelated healthy individuals.
CONCLUSION: The mutation of 521T--> C in the K6A gene is the disease causing mutation in this PC-I family.
METHODS: Blood samples were obtained from 2 affected, 3 unaffected members in this family, and 100 unrelated healthy individuals. Mutation detection was carried out by PCR amplification of the K6A gene and direct DNA sequencing.
RESULTS: A heterozygous mutation of T--> C transition at position 521 in exon 1 of the K6A gene was found in the 2 affected, but not in the unaffected members and 100 unrelated healthy individuals.
CONCLUSION: The mutation of 521T--> C in the K6A gene is the disease causing mutation in this PC-I family.