OBJECTIVE To test the diagnostic efficiency of a gene-specific, five-marker screening strategy for the detection of Y chromosome deletions. DESIGN Prospective case study. SETTING University genetics laboratory and reproductive clinics. PATIENT(S) Six hundred twenty-seven infertile men and 212 fertile men. INTERVENTION(S) Peripheral blood samples were screened for Y chromosome deletions ...

To identify the processes shaping vertebrate sex chromosomes during the early stages of their evolution, it is necessary to study systems in which genetic sex determination was recently acquired. Previous cytogenetic studies suggested that threespine stickleback fish (Gasterosteus aculeatus) do not have a heteromorphic sex chromosome pair, although recent genetic studies found evidence of an XY...

The spermatogenesis locus azoospermia factor (AZF) in Yq11 has been delineated into three microdeletion intervals designated as AZFa, AZFb andAZFc. AZFc is the most frequently deleted region. We have studied 270 male infertile patients for various genetic disorders associated with infertile phenotype. In this study, we have presented results of our studies on Y-chromosome deletions, chromosomal...

Idiopathic azoospermia and oligospermia are one of the most important reasons for male infertility. Abnormal karyotype and azoospermia factor (AZF) microdeletion are two widely acknowledged reasons, but the most causes remain unclear. Y chromosome, as the male-specific chromosome, is closely related to the development of male reproductive system. To understand better the etiology of idiopathic...

In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected ...

It is widely believed that at least three nonoverlapping regions of the human Y chromosome-AZFa, AZFb, and AZFc ("azoospermia factors" a, b, and c)-are essential for normal spermatogenesis. These intervals are defined by interstitial Y-chromosome deletions that impair or extinguish spermatogenesis. Deletion breakpoints, mechanisms, and lengths, as well as inventories of affected genes, have bee...

It has been established that the Y chromosome carries genes required for spermatogenesis and male fertility. For many decades worldwide screening for gene identification has been conducted in research laboratories. However, it has been a difficult process in identifying such genes (i.e. causative mutations) which could explain the phenotypic variation and could be potentially used as markers fo...

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 detecte...

Disorders of sex development in the human population range in severity from mild genital defects to gonadal sex reversal. XY female development has been associated with heterozygous mutations in several genes, including SOX9, WT1 and MAP3K1. In contrast, XY sex reversal in mice usually requires complete absence of testis-determining gene products. One exception to this involves T-associated sex...