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

نویسندگان

  • 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
چکیده

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.

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منابع مشابه

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

Received 14 January 1997 Revised version accepted for publication 28 May 1997 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 ofwhom subinterval E was affected. All patients retained the RBM1 and DAZ genes, while in one deletion involve...

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SUBMICROSCOPIC DELETIONS OF THE Y CHROMOSOME ARE NOT LIMITED TO AZOOSPERMIC MEN, BUT ARE ALSO DETECTED IN INFERTILE MEN WITH IDIOPATHIC OLIGOZOOSPERMIA

It is now agreed that 10-25% of infertile men with azoospermia have submicroscopic deletions of the Y chromosome long ann (yq), consistent with the proposed location of the azoospermia locus (AZF) in Yq 11.23. However, it is not known whether Yq microdeletions are unique to men with azoospermia or whether they are also observed in infertile men with less severe defects of spermatogenesis (o...

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High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.

Deletions of the DAZ gene family in distal Yq11 are always associated with deletions of the azoospermia factor c (AZFc) region, which we now estimate extends to 4.94 Mb. Because more Y gene families are located in this chromosomal region, and are expressed like the DAZ gene family only in the male germ line, the testicular pathology associated with complete AZFc deletions cannot predict the fun...

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Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.

BACKGROUND Male infertility due to severe oligozoospermia and azoospermia has been associated with a number of genetic risk factors. METHODS In this study 150 men from couples requesting ICSI were investigated for genetic abnormalities, such as constitutive chromosome abnormalities, microdeletions of the Y chromosome (AZF region) and mutations in the cystic fibrosis transmembrane conductance ...

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Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia.

Microdeletions of the azoospermia factor (AZF) regions in the Y chromosome are a well-known genetic cause of male infertility, resulting in impairment of spermatogenesis. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoosp...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 34 11  شماره 

صفحات  -

تاریخ انتشار 1997