Mutation analysis of different regions of Y-chromosome (AZFa, AZFb, AZFc, DAZ & SRY genes) in infertile male patients and its clinical consequences

2009-04-15

Mutation analysis of different regions of Y-chromosome (AZFa, AZFb, AZFc, DAZ & SRY genes) in infertile male patients and its clinical consequences

Microdeletions in azoospermia factor (AZF) region on distal Yq are associated with male infertility and spermatogenic failure due to intra-chromosomal homologous recombination between large nearly identical repeat amplicons and are found in ∼10% of azoospermic and severe oligozoospermic cases. Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion has been drawn for the role of partial AZFc deletions to spermatogenic failure. Therefore, this study is planned to investigate the role of gr/gr subdeletions in individuals with spermatogenic failure and to find its relationship with Y chromosome haplogroups (HGs) in infertile men from Indian population. It is a...

Reproductive Biomedicine

2003-01-07

Reproductive Biomedicine

1.       The Y chromosome-specific gene SRY is one of the key genes involved in human sex determination. The SRY gene encodes a testis-specific transcription factor that plays a key role in sexual differentiation and development in males and is located on the distal region of the short arm of the Y chromosome. Mutations in SRY gene result in XY sex reversal and pure gonadal dysgenesis. SRY expression initiates a network of gene activity that transforms the undifferentiated gonad, genital ridge into testis. Mutations in the SRY gene have been considered to account for only 10-15% of 46,XY gonadal dysgenesis...