title: High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome.
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.
authors.affiliation: Reproduction Genetics, Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Kamp
authors.forename: K
authors.initials: K
authors.lastname: Huellen
authors.forename: S
authors.initials: S
authors.lastname: Fernandes
authors.forename: M
authors.initials: M
authors.lastname: Sousa
authors.forename: P N
authors.initials: PN
authors.lastname: Schlegel
authors.forename: A
authors.initials: A
authors.lastname: Mielnik
authors.forename: S
authors.initials: S
authors.lastname: Kleiman
authors.forename: H
authors.initials: H
authors.lastname: Yavetz
authors.forename: W
authors.initials: W
authors.lastname: Krause
authors.forename: W
authors.initials: W
authors.lastname: Küpker
authors.forename: R
authors.initials: R
authors.lastname: Johannisson
authors.forename: W
authors.initials: W
authors.lastname: Schulze
authors.forename: W
authors.initials: W
authors.lastname: Weidner
authors.forename: A
authors.initials: A
authors.lastname: Barros
authors.forename: P H
authors.initials: PH
authors.lastname: Vogt
mesh_terms: D022202:Chromosomes, Artificial, Bacterial; D020451:Contig Mapping; D056426:Genetic Loci; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion; D016324:Sequence Tagged Sites; D012708:Sertoli Cells; D013577:Syndrome; D014998:Y Chromosome
chemical_list: D029589:Seminal Plasma Proteins