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

被引:40
作者
Imken, Laila [1 ]
El Houate, Brahim
Chafik, Abdelaziz
Nahili, Halima
Boulouiz, Redouane
Abidi, Omar
Chadli, Elbakkay
Louanjli, Noureddine
Elfath, Abdelouhab
Hassar, Mohammed
McElreavey, Ken
Barakat, Abdelhamid
Rouba, Hassan
机构
[1] Inst Pasteur, Res Dept, Human Genet & Cytogenet Unit, Casablanca 20100, Morocco
[2] Uni Chouaib Doukkali, Lab Anthropogenet & Biostat, El Jadida 24000, Morocco
[3] In Vitro Fecondat Ctr, Casablanca 20000, Morocco
[4] Inst Pasteur, Dept Dev Biol, Reprod Fertil & Populat Unit, Paris, France
关键词
Y microdeletions; haplogroups; gr/gr; infertility; bi-allelic markers;
D O I
10.1111/j.1745-7262.2007.00290.x
中图分类号
R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
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.
引用
收藏
页码:674 / 678
页数:5
相关论文
共 20 条
[1]   A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa [J].
Arredi, B ;
Poloni, ES ;
Paracchini, S ;
Zerjal, T ;
Fathallah, DM ;
Makrelouf, M ;
Pascali, VL ;
Novelletto, A ;
Tyler-Smith, C .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (02) :338-345
[2]   Association of partial AZFc region deletions with spermatogenic impairment and male infertility [J].
Ferlin, A ;
Tessari, A ;
Ganz, F ;
Marchina, E ;
Barlati, S ;
Garolla, A ;
Engl, B ;
Foresta, C .
JOURNAL OF MEDICAL GENETICS, 2005, 42 (03) :209-213
[3]  
Foresta C, 2001, Ann Ital Med Int, V16, P82
[4]   Sertoli cell function in infertile patients with and without microdeletions of the azoospermia factors on the Y chromosome long arm [J].
Foresta, C ;
Bettella, A ;
Moro, E ;
Roverato, A ;
Merico, M ;
Ferlin, A .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (06) :2414-2419
[5]   The gr/gr deletion(s): a new genetic test in male infertility? [J].
Giachini, C ;
Guarducci, E ;
Longepied, G ;
Degl'Innocenti, S ;
Becherini, L ;
Forti, G ;
Mitchell, MJ ;
Krausz, C .
JOURNAL OF MEDICAL GENETICS, 2005, 42 (06) :497-502
[6]   Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions [J].
Hopps, CV ;
Mielnik, A ;
Goldstein, M ;
Palermo, GD ;
Rosenwaks, Z ;
Schlegel, PN .
HUMAN REPRODUCTION, 2003, 18 (08) :1660-1665
[7]   High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome [J].
Kamp, C ;
Huellen, K ;
Fernandes, S ;
Sousa, M ;
Schlegel, PN ;
Mielnik, A ;
Kleiman, S ;
Yavetz, H ;
Krause, W ;
Küpker, W ;
Johannisson, R ;
Schulze, W ;
Weidner, W ;
Barros, A ;
Vogt, PH .
MOLECULAR HUMAN REPRODUCTION, 2001, 7 (10) :987-994
[8]   The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men [J].
Kawaguchi, TK ;
Skaletsky, H ;
Brown, LG ;
Minx, PJ ;
Cordum, HS ;
Waterston, RH ;
Wilson, RK ;
Silber, S ;
Oates, R ;
Rozen, S ;
Page, DC .
NATURE GENETICS, 2001, 29 (03) :279-286
[9]   Genetic evaluation of infertile men [J].
Kleiman, SE ;
Yogev, L ;
Gamzu, R ;
Hauser, R ;
Botchan, A ;
Lessing, JB ;
Paz, G ;
Yavetz, H .
HUMAN REPRODUCTION, 1999, 14 (01) :33-38
[10]   Prognostic value of Y deletion analysis - What is the clinical prognostic value of Y chromosome microdeletion analysis? [J].
Krausz, C ;
Quintana-Murci, L ;
McElreavey, K .
HUMAN REPRODUCTION, 2000, 15 (07) :1431-1434