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.
JI Man-Long, ZHANG Yuan-Yuan, LIU Xiao-Liang, HE Rong, DIAO Pan-Yan
. Chromosomal abnormality diagnosis of male infertility by QF-PCR[J]. Hereditas(Beijing), 2011
, 33(8)
: 895
-900
.
DOI: 10.3724/SP.J.1005.2011.00895
[1] Rowe PJ, Comhaire FH, Hargreave TB, Mahmoud AMA. 世界卫生组织男性不育标准化检查与诊疗手册. 李铮, 张忠平, 黄翼然, 王益鑫, 朱晓斌, 刘毅东, 张斌, 卢慧, 王磊, 曹小蓉, 刘勇, 王一飞, 译. 北京: 人民卫生出版社, 2007: 1-2.
[2] 世界卫生组织. 人类精液及精子-宫颈粘液相互作用实验室检验手册 (第4版). 谷翊群, 陈振文, 于和鸣, 罗宏志, 裴开颜, 译. 北京: 人民卫生出版社, 2001: 45.
[3] Dada R, Gupta NP, Kucheria K. Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. J Biosci, 2003, 28(2): 163-168.
[4] Cirigliano V, Voglino G, Ordoñez E, Marongiu A, Paz Cañadas M, Ejarque M, Rueda L, Lloveras E, Fuster C, Adinolfi M. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat Diagn, 2009, 29(1): 40-49.
[5] Liao C, Yang X, Li FT, Li J, Li DZ. The detection of aneuploidy and maternal contamination by QF-PCR in sam-ples undergoing prenatal diagnosis for thalassemia in Southern China. Eur J Obstet Gynecol Reprod Biol, 2009, 144(2): 149-152.
[6] Onay H, Ugurlu T, Aykut A, Pehlivan S, Inal M, Tinar S, Ozkinay C, Ozkinay F. Rapid prenatal diagnosis of common aneuploidies in amniotic fluid using quantitative fluorescent polymerase chain reaction. Gynecol Obstet Invest, 2008, 66(2): 104-110.
[7] Badenas C, Rodríguez-Revenga L, Morales C, Mediano C, Plaja A, Pérez-Iribarne MM, Soler A, Clusellas N, Borrell A, Sánchez MÁ, Miró E, Sánchez A, Milà M, Jiménez W. Assessment of QF-PCR as the first approach in prenatal diagnosis. J Mol Diagn, 2010, 12(6): 828-834.
[8] Christopoulou S, Christopoulou G, Hatzaki A, Hatzi-pouliou A, Donoghue J, Karkaletsi M, Kaminopetros P, Sifakis S, Velissariou V. The replacement of cytogenetic analysis by direct chorionic villi sampling preparation with quantitative fluorescence PCR. Gynecol Obstet Invest, 2009, 68(4): 255-261.
[9] Morales C, Sánchez A, Bruguera J, Margarit E, Borrell A, Borobio V, Soler A. Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities. Am J Med Genet A, 2008, 146A(1): 66-70.
[10] 卢彦平, 程静, 姜淑芳, 张利文, 高志英, 韩冰, 袁慧军, 李亚里. 多重荧光定量PCR技术快速诊断21三体及18三体方法的建立及临床应用. 遗传, 2010, 32(11): 1141-1146.
[11] Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the hu-man Y chromosome long arm. Hum Genet, 1976, 34(2): 119-124.
