Detection of Gene Mutation in a Pedigree with X-linked Anhidrotic Ectodermal Dysplasia by PCR-SSCP Analysis / 中华皮肤科杂志

ABSTRACT

Objective To identify the gene mutations and mu tating patterns in a pedigree with X-linked anhidrotic ectodermal dysplasia(EDA)so as to provide a basis for gene diagn osis and genetic counselling of this disorder.Methods Polymerase chain reaction-single s trand conformation polymorphism(PCR-SSCP)analysis and DNA sequencing of amplified prod ucts were performed to screen mutati ons and mutating patterns of EDA1gen e,responsible for EDA pathogenesis,i n a X-linked EDA family of Han people.Results Abnormal single strand bands were found in the amplified fra gments as well of exon 1of EDAgene in t he patients as well as their mothers,the carriers.The DNAsequencing of ampl ified products revealed a point muta tion at nucleotide 404(C→Gtransversion)in the proband compared with that of t he normal controls,which resulted i n the transversion of histidine with glutamine at codon 54in the ectodysplasin-A(H54Q).Meanwhile there were heterozyous double peaks of nucleotide Cand Gat the same position in his mother.Conclusion A missense mutation(404C→G)in exon 1of EDA1gene has been determined in the pedigree with X-linked EDA,which is probably one of the molecular bases of EDA pathogenesis.