background: deletions of the daz (deleted in azoospermia) genes within the human y chromosome's azfc region are the most common cause of spermatogenesis failure. these deletions are usually assessed by analyses of genomic dna ex­tracted from peripheral leukocytes. daz genes are expressed in male germ cells. in this prospective study, we investigated daz expression and deletion in 102 consecutiv...

BACKGROUND & OBJECTIVES Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia factor (AZF) region including AZFa, AZFb, AZFc and AZFd on the long arm of Y chromosome are considered most important for spermatogenesis. Deletions in these regions are thought to be involved in some cases of male infertility associated with azoospermia or oligozoospermia...

The purpose of this study was to detect chromosomal aberrations and azoospermia factor (AZF) microdeletions in male patients with reproductive problems and to summarize related clinical features to provide reliable information for evaluating prenatal and preimplantation diagnoses. A large cohort of 5083 men with various phenotypes of male infertility was analyzed via G-banding karyotyping, and ...

DAZAP1 (Deleted in Azoospermia Associated Protein 1) was originally identified through its interaction with a putative male azoospermia factor, DAZ (Deleted in Azoospermia). It contains 2 RNA-binding domains (RBDs) and a proline-rich C-terminal portion and is expressed most abundantly in testes. We used RNA in situ hybridization and immunocytochemistry to study the expression of Dazap1 in mouse...

The DAZ (Deleted in AZoospermia) and DAZLA (DAZ-like autosomal) genes may be determinants of male infertility. The DAZ gene on the long arm of the human Y chromosome is a strong candidate for the 'azoospermia factor' (AZF). Its role in spermatogenesis is supported by its exclusive expression in testis, its deletion in a high percentage of males with azoospermia or severe oligospermia, and its h...

Cystic fibrosis (CF) is the most common life-limiting recessive genetic disease among Caucasians caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) with over 95% male patients infertile. However, whether CFTR mutations could affect spermatogenesis and result in azoospermia remains an open question. Here we report compromised spermatogenesis, with significantly...

The Y chromosome carries several genes involved in spermatogenesis, which are distributed in three regions in the euchromatic part of the long arm, called AZFa (azoospermia factor a), AZFb, and AZFc. Microdeletions in these regions have been seen in 10-15% of sterile males with azoospermia or severe oligozoospermia. The relatively high de novo occurrence of these microdeletion events might be d...

Azoospermia is classified as obstructive azoospermia (OA) or non-obstructive azoospermia (NOA), each having very different etiologies and treatments. The etiology, diagnosis, and management of azoospermia were reviewed and relevant literature summarized. Differentiation between these two etiologies is of paramount importance and is contingent upon thorough history and physical examination and i...

[This corrects the article DOI: 10.7555/JBR.29.20150034.].

background: microdeletions of the azoospermia factor locus of the long arm of y chromosome are an etiological factor of severe oligozoospermia or azoospermia. objective: the aim of this study was to investigate the prevalence of y-chromosome microdeletions in azf region and their role in infertility in pakistani population. materials and methods: the type of deletions in azf locus were detected...