title: Investigation of AZF microdeletions in patients with Klinefelter syndrome.
abstract: We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and DNA was extracted from these samples. Multiplex polymerase chain reaction was performed to screen the partial deletions of 25 sequence-tagged sites on the Y chromosome. In 111 cases with KFS, 1 case contained the AZFb+d+c deletion. The Gr/Gr deletion was identified in 12 KFS cases and 5 control cases. In addition, the b2/b3 deletion was identified in 13 KFS cases and 6 control cases. There were no significant differences in phenotype and genotype of the 2 partial AZFc deletions between patients and controls (P > 0.05). Our results suggest that patients with KFS may also have Y chromosome microdeletions to varying degrees and that the gr/gr deletion and b2/b3 deletion may not play a role in the susceptible genetic background of azoospermia in patients with KFS in the Sichuan population.
authors.affiliation: Laboratory of Molecular Medicine, Yongchuan Hospital Chongqing Medical University, Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chongqing, China.
authors.forename: L X
authors.initials: LX
authors.lastname: Li
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, Institute of Medical Genetics, School of Life Science, Sichuan University, Chengdu, China.
authors.forename: H Y
authors.initials: HY
authors.lastname: Dai
authors.affiliation: Laboratory of Molecular Medicine, Yongchuan Hospital Chongqing Medical University, Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chongqing, China brainding@scu.edu.cn.
authors.forename: X P
authors.initials: XP
authors.lastname: Ding
authors.affiliation: Laboratory of Molecular Medicine, Yongchuan Hospital Chongqing Medical University, Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chongqing, China.
authors.forename: Y P
authors.initials: YP
authors.lastname: Zhang
authors.affiliation: Laboratory of Molecular Medicine, Yongchuan Hospital Chongqing Medical University, Bio-Resource Research and Utilization Joint Key Laboratory of Sichuan and Chongqing, Chongqing, China.
authors.forename: X H
authors.initials: XH
authors.lastname: Zhang
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, Institute of Medical Genetics, School of Life Science, Sichuan University, Chengdu, China.
authors.forename: H Y
authors.initials: HY
authors.lastname: Ren
authors.affiliation: Key Laboratory of Bio-Resources and Eco-Environment, Ministry of Education, Institute of Medical Genetics, School of Life Science, Sichuan University, Chengdu, China.
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
mesh_terms: D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D017353:Gene Deletion; D056426:Genetic Loci / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D010641:Phenotype; D029589:Seminal Plasma Proteins / Q000235:genetics*; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics
chemical_list: D029589:Seminal Plasma Proteins