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Hyderabad, India

Bashyam M.D.,DNA Diagnostics Center | Chaudhary A.K.,DNA Diagnostics Center | Kiran M.,DNA Diagnostics Center | Reddy V.,DNA Diagnostics Center | And 11 more authors.
Clinical Genetics | Year: 2014

Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A total of 13 different mutations were identified including 1 splice, 1 polypyrimidine tract (PPT) deletion and 11 missense mutations. Eleven mutations were exclusive to the Indian population. The IVS6+4A>G splice and IVS5-16delTTTTC PPT deletion mutations resulted in skipping of exon 6 precluding thereby the region responsible for cleavage of enzyme precursor. A missense mutation (p.V198A) resulted in skipping of exon 8 due to inactivation of an exonic splicing enhancer (ESE) element. This is the first report of mutations affecting PPT and ESE in the ASAH1 gene resulting in FD. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. Source


Kotikalapudi R.,Sandor Proteomics | Patel R.K.,Sandor Proteomics | Medidi H.,Sandor Proteomics | Sugali N.N.,Sandor Proteomics
Genetika | Year: 2013

Position of autosome and sex chromosomes in metaphase spreads is grate concerned of Cytogeneticians worldwide to understand cell biology. A few isolated studies have been conducted for the distribution of chromosomes in metaphase spread. Our studies reveal that most sex chromosomes (XY) remain on periphery and semi-periphery, 84.16% for X and 86.97% for Y respectively, in round metaphase spreads. The application of sex chromosome position in metaphase spreads is to easily find out sex chromosomes under microscope even without banding patterns. An another application is to identify or confirm sex chromosomes in unknown species on which cytogenetic studies have not been performed. Source

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