Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis.
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.
Henegariu
O
O
Institute Human Genetics and Anthropology, University of Heidelberg, Germany.
Hirschmann
P
P
Kilian
K
K
Kirsch
S
S
Lengauer
C
C
Maiwald
R
R
Mielke
K
K
Vogt
P
P
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
D004247:DNA