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  • Title: [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].
    Author: Zhang X, Zeng J, Lin Y, Tu X.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Feb 10; 34(1):78-80. PubMed ID: 28186600.
    Abstract:
    OBJECTIVE: To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members. METHODS: Total 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. RESULTS: DNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H). CONCLUSION: A 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.
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