title: [Screening of azoospermia factor microdeletions on Y chromosome in infertile men by QF-PCR].
abstract: To assess the application of quantitative fluorescent polymerase chain reaction (QF-PCR) on rapid screening of azoospermia factor (AZF) microdeletions, 1218 infertile men with non-obstructive azoospermia or oligospermia were detected for 9 sequence tagged sites (STSs) in AZF region by multiplex QF-PCR combined with capillary electrophoresis. AMEL (amelogenin) as well as SRY (sex-determining region of Y chromosome) located on short arm of sex chromosome was selected as internal control. Karyotyping was performed on Giemsa-banded metaphase chromosomes of peripheral blood lymphocytes. Of the 1218 patients, 105 (8.62%) were identified as AZF microdeletions. Deletion of AZFc (67.62%) was the most frequent, followed by deletion of AZFb,c (20.95%), AZFb (7.62%) and AZFa (3.81%). Five patients presented with deletions of both AZFa,b,c and AMEL-Y, indicating sex reversal which was confirmed to be 46,XX by karyotyping. Among the 105 patients with AZF microdeletions, 16 were karyotyped as chromosomal anomalies, most commonly 46,XY,Yqh- (75%, 12/16). In addition, of the total 1218 patients examined, 86 patients showed abnormal AMEL-X/AMEL- Y ratio, suggesting a possibility of sex chromosome anomalies, and 68 of them were verified as sex chromosome aneuploid by karyotyping. Multiplex QF-PCR is capable to detect all markers in one reaction and is also suggestive for sex chromosome anomalies. It could serve as an effective technique for screening Y-microdeletions, and thus have general application in diagnosis and treatment of male infertility.
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Zhang
authors.initials: Z
authors.lastname: Yuanyuan
authors.affiliation: Center of Reproductive Medicine, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Du
authors.initials: D
authors.lastname: Qiang
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Liu
authors.initials: L
authors.lastname: Xiaoliang
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Cui
authors.initials: C
authors.lastname: Wanting
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: He
authors.initials: H
authors.lastname: Rong
authors.affiliation: Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China.
authors.forename: Zhao
authors.initials: Z
authors.lastname: Yanyan
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000175:diagnosis / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods*; D012729:Sex Chromosome Aberrations; D055815:Young Adult