AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men
AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men
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DOI：
10.1111/j.1745-7262.2007.00290.x
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发表时间：
2007-09-01
影响因子：
2.9
通讯作者：
Rouba, Hassan
中科院分区：
文献类型：
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作者：
Imken, Laila;El Houate, Brahim;Rouba, Hassan
目的：首次评估摩洛哥男性Y染色体微缺失频率和AZFc区部分缺失的发生情况，并探讨AZF缺失的临床意义。方法：对149例不育男性和76例正常生育男性进行Y染色体AZFc区微缺失和部分缺失筛查。按所建立的方法进行AZFa、AZFb、AZFc及AZFc区域的部分缺失分析。结果：在127例进行微缺失筛查的男性不育患者中，发现4例存在微缺失：2例AZFc缺失，2例AZFb+AZFc缺失。全部缺失仅见于无精子症患者(4/48，8.33%)。AZFc基因总缺失率较低(4/127，3.15%)。AZF微缺失在少弱畸形精子症(OATS)和对照组中均未观察到。149例男性不育患者中有7例(4.70%)AZFc基因部分缺失(GR/GR)，对照组有7例(3.98%)AZFc基因部分缺失(GR/GR)。此外，在两名无精子症患者中发现了两个b2/b3缺失(2/149，1.34%)，而在对照组中未发现。结论：Y染色体AZF微缺失频率在严重生精功能衰竭个体中升高，GR/GR缺失与生精功能障碍无关。
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.