Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis

O. Henegariu, P. Hirschmann, K. Kilian, S. Kirsch, C. Lengauer, R. Maiwald, K. Mielke, P. Vogt

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)97-106
Number of pages10
JournalAndrologia
Volume26
Issue number2
StatePublished - 1994
Externally publishedYes

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ASJC Scopus subject areas

  • Endocrinology
  • Nephrology

Cite this

Henegariu, O., Hirschmann, P., Kilian, K., Kirsch, S., Lengauer, C., Maiwald, R., Mielke, K., & Vogt, P. (1994). Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrologia, 26(2), 97-106.