Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR.
- Author:
Xiao ZHANG
1
;
Jian ZENG
;
Yanhong LIN
;
Xiangdong TU
Author Information
- Publication Type:Case Reports
- MeSH: Androgen-Insensitivity Syndrome; genetics; Base Sequence; Child; DNA Mutational Analysis; methods; Family Health; Female; Humans; Male; Mutation, Missense; Pedigree; Receptors, Androgen; genetics; Reverse Transcriptase Polymerase Chain Reaction; methods
- From: Chinese Journal of Medical Genetics 2017;34(1):78-80
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members.
METHODSTotal RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing.
RESULTSDNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H).
CONCLUSIONA prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.
