Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia

被引:181
作者
Simoni, M
Gromoll, J
Dworniczak, B
Rolf, C
Abshagen, K
Kamischke, A
Carani, C
Meschede, D
Behre, HM
Horst, J
Nieschlag, E
机构
[1] UNIV MUNSTER,INST REPROD MED,D-48129 MUNSTER,GERMANY
[2] UNIV MUNSTER,INST HUMAN GENET,D-48129 MUNSTER,GERMANY
[3] UNIV MODENA,DEPT INTERNAL MED,CHAIR ENDOCRINOL,I-41100 MODENA,ITALY
关键词
azoospermia; oligozoospermia; male infertility; DAZ; AZF;
D O I
10.1016/S0015-0282(97)80083-0
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Objective: To evaluate the occurrence and prevalence of microdeletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in patients with azoospermia or severe oligozoospermia. Design: Controlled clinical study. Setting: University infertility clinic. Patient(s): Infertile men (n = 168) with nonobstructive, idiopathic azoospermia or severe oligozoospermia and normal LH. The control group consisted of proven fathers (n = 86). Intervention(s): None. Main Outcome Measure(s): Semen analysis; polymerase chain reaction amplification of the loci sY84, sY143, sY254, and sY255; serum FSH, LH, and T; testicular volume. Result(s): Deletions involving the sY254 and sY255 DAZ loci were found in three azoospermic patients and two men with sperm concentration <1 x 10(6)/mL. Serum FSH was elevated in four patients and was normal in one. All five patients had decreased testicular volumes compared with controls. No deletions involving the sY84 and sY143 loci were found. The four loci were amplified normally in the control group. Conclusion(s): The estimated frequency of deletions involving the DAZ locus is 3% in azoospermic-severely oligozoospermic men consulting an infertility clinic. Polymerase chain reaction amplification of the DAZ locus is useful for the diagnosis of microdeletions of the Y chromosome. Deletions involving more proximal regions of the Y chromosome seem to be rare.
引用
收藏
页码:542 / 547
页数:6
相关论文
共 25 条
  • [21] VOGT P, 1992, HUM GENET, V89, P491
  • [22] Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
    Vogt, PH
    Edelmann, A
    Kirsch, S
    Henegariu, O
    Hirschmann, P
    Kiesewetter, F
    Kohn, FM
    Schill, WB
    Farah, S
    Ramos, C
    Hartmann, M
    Hartschuh, W
    Meschede, D
    Behre, HM
    Castel, A
    Nieschlag, E
    Weidner, W
    Grone, HJ
    Jung, A
    Engel, W
    Haidl, G
    [J]. HUMAN MOLECULAR GENETICS, 1996, 5 (07) : 933 - 943
  • [23] The azoospermia factor (AZF) of the human Y chromosome in Yq11: Function and analysis in spermatogenesis
    Vogt, PH
    Edelmann, A
    Hirschmann, P
    Kohler, MR
    [J]. REPRODUCTION FERTILITY AND DEVELOPMENT, 1995, 7 (04) : 685 - 693
  • [24] THE HUMAN Y-CHROMOSOME - A 43-INTERVAL MAP BASED ON NATURALLY-OCCURRING DELETIONS
    VOLLRATH, D
    FOOTE, S
    HILTON, A
    BROWN, LG
    BEERROMERO, P
    BOGAN, JS
    PAGE, DC
    [J]. SCIENCE, 1992, 258 (5079) : 52 - 59
  • [25] *WHO, 1992, LAB MANUAL EXAMINATI