title: Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis.
abstract: A rapid molecular screening programme has been established for the long arm of the human Y chromosome in Yq11 in order to quickly detect small interstitial deletions in this chromosome region. They have been observed in idiopathic sterile males with azoospermia and a severe oligozoospermia and are therefore indicative for deletion of AZF gene sequences. AZF (i.e. azoospermia factor) is a genetic factor located in Yq11 which controls human spermatogenesis. The screening programme is based mainly on a multiplex PCR approach using a series of Y-specific primers amplifying single DNA loci in Yq11. The order of all Y-DNA loci can be unequivocally arranged along the whole long Y arm. Therefore, any detected deletion can be quickly mapped in relation to the proposed position of AZF. Benefits and pitfalls of this new diagnostic Y screening method will be discussed.
authors.affiliation: Institute Human Genetics and Anthropology, University of Heidelberg, Germany.
authors.forename: O
authors.initials: O
authors.lastname: Henegariu
authors.forename: P
authors.initials: P
authors.lastname: Hirschmann
authors.forename: K
authors.initials: K
authors.lastname: Kilian
authors.forename: S
authors.initials: S
authors.lastname: Kirsch
authors.forename: C
authors.initials: C
authors.lastname: Lengauer
authors.forename: R
authors.initials: R
authors.lastname: Maiwald
authors.forename: K
authors.initials: K
authors.lastname: Mielke
authors.forename: P
authors.initials: P
authors.lastname: Vogt
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000737:chemistry; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014998:Y Chromosome
chemical_list: D004247:DNA