title: [Chromosomal abnormality diagnosis of male infertility by QF-PCR].
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 comprehensive, rapid and reliable method for detecting abnormal chromosomal regions and microstructures compared with traditional tests and provides a better candidate for diagnosis of male infertility caused by chromosomal anomalies and gene mutation.
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Man-Long
authors.initials: ML
authors.lastname: Qi
authors.forename: Yuan-Yuan
authors.initials: YY
authors.lastname: Zhang
authors.forename: Xiao-Liang
authors.initials: XL
authors.lastname: Liu
authors.forename: Rong
authors.initials: R
authors.lastname: He
authors.forename: Yan-Yan
authors.initials: YY
authors.lastname: Zhao
mesh_terms: D002869:Chromosome Aberrations; D019937:Diagnostic Techniques and Procedures / Q000295:instrumentation; D005453:Fluorescence; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction / Q000295:instrumentation / Q000379:methods*; D012661:Semen / Q000737:chemistry / Q000166:cytology