Detection Of EDA Gene Mutation In A Pedigree Of Han Nationality In Xinjiang With X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Objective: To identify EDA gene mutation in a pedigree of Han nationality in Xinjiang with X-linked hypohidrotic ectodermal dysplasia (XLHED) so as to provide a basis for gene and genetics diagnosis of this disorder.Methods: To investigate a pedigree of Han nationality in Xinjiang with XLHED, and clinical examination, diagnosis were taken for the families and made records of the status of tooth agenesis including the number, distribution, abnormality and size of missing tooth. Polymeras chain reaction (PCR) and DNA sequencing technique were performed to screen mutation of the exon 9 of EDA gene in those peripheral blood samples; 18 blood samples of six patients and the parents were obtained and forty blood samples of unrelated member without presumed XLHED were obtained as control.Results: The patients were diagnosed as X-linked hypohidrotic ectodermal dysplasia. All patients were males in the families. The females in the families were recessive carries. The DNA sequencing results revealed a point mutation at nucleotide 105 (the same position 358 in the exon 9) A→G transition in the patients compared with that of the normal controls. The results showed that there was a transition of aspartic acid with glycine at codon 119 in the ectodysplasin-A (D119G). Meanwhile there were heterozygous double peaks of nucleotide A and G in the mother and single peak of nucleotide A at the same position in the father.