Genetic analysis and prenatal diagnosis of a family with androgen insensitivity syndrome
HE Jing
ZHANG Jinman
QI Shuwu
SU Jie
ZHU Shu
ZHU Baosheng
Abstract：Objective To identity mutation types of androgen receptor (AR) in a family with androgen insensitivity syndrome and offer genetic counseling and prenatal diagnosis for this family.Methods G-banded karyotyping and DNA sequencing of AR gene were employed to identify genetic mutation in AIS patients and some other members of the same family,and genetic analysis was carried out.Results All GTG banding result of probands and fetus showed 46,XX.A three nucleotides deletion in exon 4 of the AR gene (2069-2071delACG) was detected in probands,which caused deletion of amino acid Asp691 in AR protein and a truncated protein of 919 aa.Mothers are carrier of this mutation,which was not found in the normal controls.Conclusion The de1691Asp mutation is a novel mutation of the AR protein,which causes complete androgen insensitivity syndrome.The family could be provided with accurate prenatal diagosis by genetic counseling and genetic detcetion.
Keywords：androgen insensitivity syndromeandrogen receptorgene mutation
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 622-625 )