Molecular Human Reproduction, Vol. 7, No. 10, 987-994,
October 2001
© 2001 European Society of Human Reproduction and Embryology
Reproductive genetics |
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome
1 Reproduction Genetics, Institute of Human Genetics, University of Heidelberg, Germany, 2 Department of Human Genetics, Faculty of Medicine, University of Porto, 3 Institute of Biomedical Sciences Abel Salazar, University of Porto, Portugal, 4 Department of Urology, New York Presbyterian Hospital–Cornell & The Population Council, New York, USA, 5 Institute for the Study of Fertility, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, 6 Department of Andrology, University of Marburg, 7 Department of Obstetrics and Gynecology, Medical University of Lübeck, 8 Institute of Pathology, Medical University of Lübeck, 9 Department of Andrology, UKE, Hamburg and 10 Clinic of Urology, University of Giessen, Germany 11 To whom correspondence should be addressed at: Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany. E-mail: peter_vogt{at}med.uni-heidelberg.de
Abstract
We have developed a rapid screening protocol for deletion analysis of the complete AZFa sequence (i.e. 792 kb) on the Y chromosome of patients with idiopathic Sertoli-cell-only (SCO) syndrome. This Y deletion was mapped earlier in proximal Yq11 and first found in the Y chromosome of the SCO patient JOLAR, now designated as the AZFa reference patient. We now show that similar AZFa deletions occur with a frequency of 9% in the SCO patient group. In two multiplex polymerase chain reaction experiments, deletions of the complete AZFa sequence were identified by a typical deletion pattern of four new sequence-tagged sites (STS): AZFa-prox1, positive; AZFa-prox2, negative; AZFa-dist1, negative; AZFa-dist2, positive. The STS were established in the proximal and distal neighbourhoods of the two retroviral sequence blocks (HERV15yq1 and HERV15yq2) which encompass the break-point sites for AZFa deletions of the human Y chromosome. We have found deletions of the complete AZFa sequence always associated with a uniform SCO pattern on testicular biopsies. Patients with other testicular histologies as described in the literature and in this paper have only partial AZFa deletions. The current AZFa screening protocols can therefore be improved by analysing the extension of AZFa deletions. This may provide a valuable prognostic tool for infertility clinics performing testicular sperm extraction, as it would enable the exclusion of AZFa patients with a complete SCO syndrome.
AZFa deletions/AZFa STS multiplex PCR/idiopathic male infertility/human Y chromosome/SCO syndrome
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