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HEREDITAS ›› 2011, Vol. 33 ›› Issue (8): 895-900.doi: 10.3724/SP.J.1005.2011.00895

• en • Previous Articles    

Chromosomal abnormality diagnosis of male infertility by QF-PCR

QI Man-Long, ZHANG Yuan-Yuan, LIU Xiao-Liang, HE Rong, ZHAO Yan-Yan   

  1. Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China
  • Received:2011-04-29 Revised:2011-07-14 Online:2011-08-20 Published:2011-08-25
  • Contact: Yanyan Zhao E-mail:yyzhao@sj-hospital.org

Abstract: To assess the clinical practice of quantitative fluorescence PCR (QF-PCR) in genetic diagnosis of male infertility patients, 78 nonobstructive male infertility patients were pooled for semen routine screening and sexual hormone determination; QF-PCR was applied to detect the polymorphic short tandem repeat (STR) and specific sequence tagged site (STS) of sex chromosomes; routine chromosome G-band was used for karyotype analysis and PCR was used for the detection of AZF microdeletion. Routine screening of semen found 18 azoospermia and 20 oligospermia patients (48.72%). Three patients with 47, XXY, two with 46,XX(SRY+)and one with AZFc microdeletion were detected using QF-PCR technique which were verified by chromosome G-band and PCR. This study suggests that QF-PCR is a compre-hensive, rapid and reliable method for detecting abnormal chromosomal regions and microstructures compared with tradi-tional tests and provides a better candidate for diagnosis of male infertility caused by chromosomal anomalies and gene mutation.

Key words: azoospermia, genetics, gene, STR, SRY