title: [Search for microdeletions in the long arm of chromosome Y in 48 infertile men].
abstract: About 30% of infertilities are from male origin. They appear in some cases de novo and considered idiopathic. The aim of our work is to evaluate, in these cases, the Y chromosome long arm microdeletion prevalence within the AZF a, b and c regions by molecular biology technics. Were excluded from our study, azoo-oligospermia from hereditary, endocrine, obstructive origins or with a constitutional cytogenetic abnormality. 48 infertile men with a spermogram-proven azoo-oligospermia were studied. Among them, 30 were idiopathics, 8 out of them exhibited a genital infection past history or biological abnormalities suggesting partial obtruction of the genito-urinary tractus. 8 cases of varicocela and 10 of cryptorchidia were also studied. Peripheral blood DNA was extracted from each patient, then amplified by multiplex PCR with STS genomic markers from the 3 Y chromosome AZF zones. PCR products were then analysed on agarose gels. Considering the difficulty to affirm the absence of a signal in molecular biology, each suspicion of deletion was checked by multiplex PCR complication with the SRY marker. 5 Y chromosome long arm microdeletions were diagnosed among our 48 patients. All of them included the AZFc zone and the intragenic DAZ gene markers. Moreover a larger Y chromosome deletion encompassing the 3 AZF zones was diagnosed, and confirmed by the cytogenetic analysis. All the Y chromosome microdeletions were observed in the 22 truly idiopathic azoo/oligospermia, corresponding to a proportion of 22.7% which falls to 10.4% considering the whole population of 48 studied people (closer to the published data). The relatively high proportion of microdeletions found in our series, underlines the need of a strict patient selection to avoid unnecessary search for long arm Y chromosome microdeletions.
authors.affiliation: Unité d'oncogénétique INSERM CRI 9502 & EA 2145, Clermont-Ferrand, France.
authors.forename: I
authors.initials: I
authors.lastname: Seifer
authors.forename: S
authors.initials: S
authors.lastname: Amat
authors.forename: P
authors.initials: P
authors.lastname: Delgado-Viscogliosi
authors.forename: D
authors.initials: D
authors.lastname: Boucher
authors.forename: Y J
authors.initials: YJ
authors.lastname: Bignon
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000097:blood; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007248:Infertility, Male / Q000145:classification / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D018579:Patient Selection; D016133:Polymerase Chain Reaction; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA
vernacular_title: Recherche de microdélétions du bras long du chromosome Y chez 48 hommes infertiles.