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By Express News Service
BENGALURU: A study using Next Generation Sequencing (NGS) to determine carrier frequency and to look out for any mutations in common genetic disorders in Indians, done by MedGenome Labs in Bengaluru, and Sir Ganga Ram Hospital, New Delhi, found that out of the 200 participants, 52 (26%) were found to be carriers of one or more rare genetic disorders, 12 individuals (6%) were identified to be carriers for congenital deafness, 9 individuals (4.5%) were carriers for cystic fibrosis and 2 individuals were detected to be carriers for the Pompe disease.
The study showed a higher carrier frequency for these disorders, which was contrary to the generally held view about their low prevalence in Asian Indians. “The disease causing variants observed for disorders such as deafness, cystic fibrosis, Pompe disease, Canavan disease, primary hyperoxaluria, junctional epidermolysis bullosa, galactosemia, medium chain acyl CoA deficiency etc. were different from what is seen in the Western population. Thus, this pilot study highlights the importance of having a Genetic Variant Database for the Indian population,” a press release said.
The 22-month study was done on a North Indian population, where 200 individuals were screened for pathogenic variants in shortlisted 88 genes, using NGS technology. These variants were classified as per the guidelines of American College of Medical Genetics. Dr Sunita Bijarnia-Mahay, author and senior consultant, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, said, “This study brought surprises by detecting those genetic disorders like cystic fibrosis which were not thought to be common.
In future, such NGS-based screening tests will …
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