QF-PCR筛查男性不育患者Y染色体无精子症因子微缺失

doi:10.3724/SP.J.1005.2014.0552

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HEREDITAS(Beijing) ›› 2014, Vol. 36 ›› Issue (6): 552-557.doi: 10.3724/SP.J.1005.2014.0552

• Research Articles • Previous Articles Next Articles

Screening of azoospermia factor microdeletions on Y chromosome in infertile men by QF-PCR

Yuanyuan Zhang¹, Qiang Du², Xiaoliang Liu¹, Wanting Cui¹, Rong He¹, Yanyan Zhao¹

1. Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China;
2. Center of Reproductive Medicine, Shengjing Hospital, China Medical University, Shenyang 110004, China

Received:2013-12-17 Revised:2014-02-12 Online:2014-06-20 Published:2014-05-28

Abstract

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.

Key words: azoospermia factor, microdeletion, Y chromosome, quantitative fluorescent polymerase chain reaction, male infertility

Yuanyuan Zhang, Qiang Du, Xiaoliang Liu, Wanting Cui, Rong He, Yanyan Zhao. Screening of azoospermia factor microdeletions on Y chromosome in infertile men by QF-PCR[J]. HEREDITAS(Beijing), 2014, 36(6): 552-557.

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Screening of azoospermia factor microdeletions on Y chromosome in infertile men by QF-PCR

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