High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome

• Type: Article in International Scientific Journal
• Date: 2001

Authors

Kamp, C (Author) Other; Huellen, K (Author) Other; Fernandes, S (Author) Other; sousa, m (Author) ICBAS; Schlegel, PN (Author) Other; Mielnik, A (Author) Other; Kleiman, S (Author) Other; Yavetz, H (Author) Other; Krause, W (Author) Other; Kupker, W (Author) Other; Johannisson, R (Author) Other; Schulze, W (Author) Other; Weidner, W (Author) Other; barros, a (Author) FMUP; Vogt, PH (Author) Other

Journal

Title: Molecular Human Reproduction

Vol. 7

Pages: 987-994

ISSN: 1360-9947

Publisher: Oxford University Press

Indexing

ISI Web of Knowledge - 133 Citations

Scopus - 168 Citations

Other information

Authenticus ID: P-000-T6N

DOI: 10.1093/molehr/7.10.987

Abstract (EN): 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 breakpoint 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8