AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men  

作　　者：Laila Imken Brahim El Houate Abdelaziz Chafik Halima Nahili Redouane Boulouiz Omar Abidi Elbakkay Chadli Noureddine Louanjli Abdelouhab Elfath Mohammed Hassar Ken McElreavey Abdelhamid Barakat Hassan Rouba 

机构地区：[1]Human Genetic and Cytogenetic Unit, Research Department, Pasteur Institute of Morocco, Ezzahraoui 20100 Casablanca,Morocco [2]Laboratory of Anthropogenetic and Biostatistic, University Chouaib Doukkali, 299 Eljadida 24000, Morocco [3]In Vitro Fecondation Center, 40 Rue Prince Moulay Abedelah 20 000, Casablanca, Morocco [4]Reproduction, Fertility and Population Unit, Developmental Biology Department, Pasteur Institute, 25 Rue Docteur Roux, Paris, France

出　　处：《Asian Journal of Andrology》2007年第5期674-678,共5页亚洲男性学杂志（英文版）

摘　　要：Aim： To evaluate for the first time the frequency of Y chromosome microdeletions and the occurrence of the partial deletions of AZFc region in Moroccan men, and to discuss the clinical significance of AZF deletions. Methods： We screened Y chromosome microdeletions and partial deletions of the AZFc region of a consecutive group of infertile men （n = 149） and controls （100 fertile men, 76 normospermic men）. AZFa, AZFb, AZFc and partial deletions of the AZFc region were analyzed by polymerase chain reaction （PCR） according to established protocols. Results： Among the 127 infertile men screened for microdeletion, four subjects were found to have microdeletions： two AZFc deletions and two AZFb＋AZFc deletions. All the deletions were found only in azoospermic subjects （4/48, 8.33%）. The overall AZFc deletion frequency was low （4/127, 3.15%）. AZF microdeletions were not observed in either oligoasthenoteratozoospermia （OATS） or the control. Partial deletions of AZFc （gr/gr） were observed in a total of 7 of the 149 infertile men （4.70%） and 7 partial AZFc deletions （gr/gr） were found in the control group （7/176, 3.98%）. In addition, two b2/b3 deletions were identified in two azoospermic subjects （2/149, 1.34%） but not in the control group. Conclusion： Our results suggest that the frequency of Y chromosome AZF microdeletions is elevated in individuals with severe spermatogenic failure and that gr/gr deletions are not associated with spermatogenic failure.Aim： To evaluate for the first time the frequency of Y chromosome microdeletions and the occurrence of the partial deletions of AZFc region in Moroccan men, and to discuss the clinical significance of AZF deletions. Methods： We screened Y chromosome microdeletions and partial deletions of the AZFc region of a consecutive group of infertile men （n = 149） and controls （100 fertile men, 76 normospermic men）. AZFa, AZFb, AZFc and partial deletions of the AZFc region were analyzed by polymerase chain reaction （PCR） according to established protocols. Results： Among the 127 infertile men screened for microdeletion, four subjects were found to have microdeletions： two AZFc deletions and two AZFb＋AZFc deletions. All the deletions were found only in azoospermic subjects （4/48, 8.33%）. The overall AZFc deletion frequency was low （4/127, 3.15%）. AZF microdeletions were not observed in either oligoasthenoteratozoospermia （OATS） or the control. Partial deletions of AZFc （gr/gr） were observed in a total of 7 of the 149 infertile men （4.70%） and 7 partial AZFc deletions （gr/gr） were found in the control group （7/176, 3.98%）. In addition, two b2/b3 deletions were identified in two azoospermic subjects （2/149, 1.34%） but not in the control group. Conclusion： Our results suggest that the frequency of Y chromosome AZF microdeletions is elevated in individuals with severe spermatogenic failure and that gr/gr deletions are not associated with spermatogenic failure.

关 键 词：Y microdeletions HAPLOGROUPS gr/gr INFERTILITY bi-allelic markers 

分 类 号：R698.2[医药卫生—泌尿科学]