No partial DAZ deletions but frequent gene conversion events on the Y chromosome of fertile men

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Molecular Study of Partial Deletions of AZFc Region of the Y Chromosome in Infertile Men

Background & Aims: The most significant cause of infertility in men is the genetic deletion in the azoospermia factor (AZF) region that is caused by the process of intra- and inter-chromosomal homologous recombination in amplicons. Homologous recombination could also result in partial deletions in AZF region. The aim of this research was to determine the association between the partial AZFc del...

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Quantitative evaluation of partial deletions of the DAZ gene cluster.

Partial deletions of the DAZ gene cluster are thought to cause spermatogenesis impairment. The presence of homologous copies of this gene in the Y chromosome does not allow PCR to be used for the identification of this abnormality. Hence, sequence family variants (SFV), following amplification of sY581, sY587 and sY586 and subsequent enzymatic digestion with Sau3A, DraI and TaqI, respectively, ...

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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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AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.

AIM To evaluate for the first time the frequency of Y chromosome microdeletions and the occurrence of the partial deletions of AZFc region in Moroccan men, and to discuss the clinical significance of AZF deletions. METHODS We screened Y chromosome microdeletions and partial deletions of the AZFc region of a consecutive group of infertile men (n = 149) and controls (100 fertile men, 76 normosp...

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Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome.

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to ret...

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ژورنال

عنوان ژورنال: Journal of Assisted Reproduction and Genetics

سال: 2005

ISSN: 1058-0468,1573-7330

DOI: 10.1007/s10815-005-4910-x