Partial AZFc deletions and duplications: clinical correlates in the Italian population
نویسندگان
چکیده
منابع مشابه
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...
متن کاملAnalysis of partial AZFc deletions in Malaysian infertile male subjects.
Complete deletions in the AZF (a, b, and c) sub-regions of the Y-chromosome have been shown to contribute to unexplained male infertility. However, the role of partial AZFc deletions in male infertility remains to be verified. Three types of partial AZFc deletions have been identified. They are gr/gr, b1/b3, and b2/b3 deletions. A recent meta-analysis showed that ethnic and geographical factors...
متن کاملPartial AZFc deletions in infertile men with cryptorchidism.
BACKGROUND A specific type of partial AZFc deletion, called 'gr/gr' deletion, was recently proposed as genetic risk factor for spermatogenic impairment and testis cancer. Since both pathologies can be part of the testicular dysgenesis syndrome (TDS), we aimed to define the role of 'gr/gr' deletion in the aethiopathogenesis of another component of the TDS: cryptorchidism. METHODS A total of 14...
متن کاملAZF 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...
متن کاملInversions with deletions and duplications.
Complex mutational events, including de novo inversion with deletion and duplication of sequence, have been observed but are difficult to model. We propose that nascent leading-strand misalignment upon the lagging-strand template during DNA replication can result in the inversion of sequence. The positioning of this misalignment and of the realignment of the leading strand back into the leading...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2008
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-008-0561-1