[一个患有I型先天性厚甲症家系中角蛋白6A基因的521 T→C突变]
[The 521 T--> C mutation in the keratin 6A gene in a pedigree with pachyonychia congenita type I].
作者信息
Yang Lijia, Li Ming, Lai Meiling, Ni Jingjing
机构信息
Department of Dermatology, Wuxi Second Affiliated Hospital, Nanjing Medical University, Wuxi, Jiangsu, 214002 P.R. China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):66-8. doi: 10.3760/cma.j.issn.1003-9406.2010.01.014.
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.
目的
鉴定一个患有Ⅰ型先天性厚甲症（PC-Ⅰ）的家系中角蛋白6A（K6A）基因的突变情况。
方法
采集该家族中2名患者、3名未患病成员以及100名无亲缘关系的健康个体的血样。通过K6A基因的PCR扩增和直接DNA测序进行突变检测。
结果
在2名患者中发现K6A基因第1外显子521位发生了T→C的杂合突变，而在未患病成员和100名无亲缘关系的健康个体中未发现该突变。
结论
K6A基因521T→C突变是该PC-Ⅰ家系的致病突变。
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