A Novel Mutation of ADAR Gene Identified in a Chinese Pedigree with Dyschromatosis Symmetrical Hereditaria
- VernacularTitle:遗传性对称性色素异常症一家系中ADAR基因的新突变
- Author:
Yan DIAN
;
Yan MENG
;
Zheng WANG
;
Yuanyuan PENG
;
Xiaoqiao LI
;
Qing ZHOU
;
Liang SU
;
Shangzhi HUANG
- Publication Type:Journal Article
- Keywords:
Dyschromatosis symmetrical hereditaria;
ADAR gene;
Mutation analysis;
Allele-specific PCR
- From:
Journal of Medical Research
2006;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To discover the mutation of ADAR gene in a pedigree with dyschromatosis symmetrical hereditaria(DSH). Methods We investigated this family and collected blood samples of the individuals in this family. Mutation screening was carried out by PCR and direct sequencing. The allele specific primer was designed for the mutation point, and allele-specific PCR was carried out on the patients, normal family members and 40 normal individuals. Results A single nucleotide deletion (c.1642 delC) was identified in exon3 of ADAR gene in the patients of this family. This mutation was not detected in the normal family members and in any of the control individuals. Conclusion This single nucleotide deletion was responsible for the disease in the family.
