Title |
UPDATE ON NOVEL GENE DISCOVERY FROM INDIA IN SINGLE GENE DISORDERS |
| Genetics Vol:13 Iss:3 (2021-03-30) : 807-820 |
Authors |
A. DAS BHOWMIK |
Published on |
30 Mar 2021 Pages : 807-820 Article Id : BIA0005748 Views : 107 Downloads : 205 |
|
Abstract |
Full Text |
PDF | XML |
PubMed XML |
CNKI |
Cited By |
Open Access | Review Article
Single gene disorders are mostly rare in nature and jointly an important cause of morbidity and mortality in India. The identification of disease-causing genes for single gene disorders has important value in prenatal diagnosis and genetic counseling of affected individuals and their families. Once gene is identified, families have the option to look for the presence of the disease causing variation in the second child through genetic testing before the birth of the child and plan accordingly. It also has immense importance in basic research towards understanding gene functions and mechanisms of disease that may help in development of new therapeutic options. India has a rich resource of patients with single gene disorders, owing to the large population and practice of consanguineous marriages. With the advent of high throughput next generation sequencing technologies, disease-gene identification studies not only help in capacity building in the country but also provide new insights into human gene functions. This review article briefly summarize the number of novel genes reported from India till date in association with single gene disorders
|