Population Council Research that makes a difference

Abstract

High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome (HTML) 
Kamp,Christine; Huellen,Karin; Fernandes,S.; Sousa,M.; Schlegel,Peter N.; Mielnik,Anna; Kleinman,S.; Yavetz,H.; Krause,W.; Kupker,Wolfgang; Johannisson,R.; Schulze,Wolfgang; Weidner,Wolfgang; Barros,A.; Vogt,Peter H.
Molecular Human Reproduction 7(10): 987-994
Publication date: 2001

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We have developed a rapid screening protocol for deletion analysisof the complete AZFa sequence (i.e. 792 kb) on the Y chromosomeof patients with idiopathic Sertoli-cell-only (SCO) syndrome.This Y deletion was mapped earlier in proximal Yq11 and firstfound in the Y chromosome of the SCO patient JOLAR, now designatedas the AZFa reference patient. We now show that similar AZFadeletions occur with a frequency of 9% in the SCO patient group.In two multiplex polymerase chain reaction experiments, deletionsof the complete AZFa sequence were identified by a typical deletionpattern 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 distalneighbourhoods of the two retroviral sequence blocks (HERV15yq1and HERV15yq2) which encompass the break-point sites for AZFadeletions of the human Y chromosome. We have found deletionsof the complete AZFa sequence always associated with a uniformSCO pattern on testicular biopsies. Patients with other testicularhistologies as described in the literature and in this paperhave only partial AZFa deletions. The current AZFa screeningprotocols can therefore be improved by analysing the extensionof AZFa deletions. This may provide a valuable prognostic toolfor infertility clinics performing testicular sperm extraction,as it would enable the exclusion of AZFa patients with a completeSCO syndrome.

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