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Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis
Author(s) -
Henegariu O.,
Hirschmann P.,
Kilian K.,
Kirsch S.,
Lengauer C.,
Maiwald R.,
Mielke K.,
Vogt P.
Publication year - 2009
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/j.1439-0272.1994.tb00765.x
Subject(s) - azoospermia factor , y chromosome , genetics , male infertility , biology , azoospermia , y chromosome microdeletion , chromosome , gene , sequence tagged site , karyotype , gene mapping , infertility , pregnancy
Summary. 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.

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