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http://hdl.handle.net/123456789/1420
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DC Field | Value | Language |
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dc.contributor.author | Ali, Sher | - |
dc.contributor.author | Deepali Pathak | - |
dc.contributor.author | Sandeep Kumar Yadav | - |
dc.contributor.author | Leena Rawal | - |
dc.date.accessioned | 2022-09-16T11:22:48Z | - |
dc.date.available | 2022-09-16T11:22:48Z | - |
dc.date.issued | 2015-12 | - |
dc.identifier.uri | http://hdl.handle.net/123456789/1420 | - |
dc.description.abstract | Sex chromosome-related anomalies engender plethora of conditions leading to male infertility. Hypogonadotropic hypogonadism (HH) is a rare but well-known cause of male infertility. Present study was conducted to ascertain possible consensus on the alterations of the Y-linked genes and loci in males representing hypogonadism (H), which in turn culminate in reproductive dysfunction. A total of nineteen 46, XY males, clinically diagnosed with H (11 representative HH adults and eight prepubertal boys suspected of having HH) were included in the study. Sequence-tagged site screening,SRY gene sequencing,fluorescence in situ hybridization mapping (FISH), copy number and relative expression studies by real-time PCR were conducted to uncover the altered status of the Y chromosome in the patients. The result showed random microdeletions within the AZFa (73%)/b (78%) and c(26%) regions. Sequencing of the SRY gene showed nucleotide variations within and outside of the HMG box in four males (21%). FISH uncovered mosaicism for SRY, AMELY,DAZ genes and DYZ1 arrays, structural rearrangement for AMELY (31%) and duplication of DAZ (57%) genes. Copy number variation for seven Y-linked genes (2-8 rounds of duplication), DYZ1 arrays (495-6201 copies) and differential expression of SRY,UTY and VCY in the patients' blood were observed. Present work demonstrates the organizational vulnerability of several Y-linked genes in H males. These results are envisaged to be useful during routine diagnosis of H patients. | en_US |
dc.language.iso | en | en_US |
dc.publisher | Indian Academy of Sciences, Bengaluru | en_US |
dc.title | Mutational landscape of the human Y chromosome-linked genes and loci in patients with hypogonadism | en_US |
dc.type | Article | en_US |
dc.journal | J Genet | en_US |
dc.volumeno | 94 | en_US |
dc.issueno | 4 | en_US |
dc.pages | 677-687 | en_US |
Appears in Collections: | Molecular Genetic, Publications |
Files in This Item:
File | Description | Size | Format | |
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PATHAK2015_Article.pdf | 6.93 MB | Adobe PDF | View/Open |
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