Gene Mutation Analysis In Chinese Patients With Ectodermal Dysplasia

Objective: In order to analysis the mutations of connexin30 gene in a pedigreewith hidrotic ectodermal dysplasia (HED). Methods: Blood samples were obtained from 18 affected and 16 normal individuals in this family. Mutation scanning was carried out by PCR and direct sequencing. Results: A transition, 31(G-A), leading to a missense mutation (G11R) in 18 patients was detected, but the point mutation was not found in 16 normal individuals in this HED family and in 188 unrelated, population-match control individuals, indicating that they do not represent common polymorphisms. RT-PCR was performed to further identify the pathogeny of this disease. Conclusion: A missense mutation (31 G-A) in the connexin30 gene has been determined in the pedigree with HED, which is probably one of the molecular bases of HED pathogenesis.