Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene

L. Stuppia, V. Gatta, G. Mastroprimiano, F. Pompetti, G. Calabrese, P. Guanciali Franchi, E. Morizio, R. Mingarelli, M. Nicolai, R. Tenaglia, L. Improta, V. Sforza, S. Bisceglia, G. Palka

Research output: Contribution to journalArticlepeer-review

Abstract

Y chromosome molecular analysis was performed using the STS-PCR technique in 50 patients with oligozoospermia. Microdeletions of interval 6 of the Y chromosome were detected in seven patients, in six of whom subinterval E was affected. All patients retained the RBM1 and DAZ genes, while in one deletion involved the SPGY gene. The size of the deletion was not apparently related to the severity of the disease. These results suggest the presence of an oligozoospermia critical region on the Y chromosome within subinterval E of interval 6.

Original languageEnglish
Pages (from-to)881-883
Number of pages3
JournalJournal of Medical Genetics
Volume34
Issue number11
Publication statusPublished - 1997

Keywords

  • Chromosome deletion
  • Oligozoospermia
  • PCR
  • Y chromosome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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