Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia.
- VernacularTitle:X连锁隐性遗传性少汗性外胚层发育不全一家系EDA基因突变分析
- Author:
Mingyang LI
1
;
He YUAN
;
Jiyao LI
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Child; Ectodermal Dysplasia 1, Anhidrotic; diagnosis; genetics; Ectodysplasins; genetics; Exons; Female; Genotype; Humans; Male; Mutation; Pedigree
- From: Chinese Journal of Medical Genetics 2013;30(3):274-276
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).
METHODSGenomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.
RESULTSA c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.
CONCLUSIONA c.467G>A mutation of the EDA gene probably underlies the disease in the family.
