Abstract
Genetic carrier screening finds a new place in clinical practice today. Consequent to advanced technology coupled with increased awareness among population in the reproductive age group, this seems to be gaining popularity. Indian population is a heterogeneous mix of several sub-populations and the gene pool is quite different from the western or oriental populations. Thus, a need to detect carrier frequency was felt and a pilot study was performed at a tertiary care hospital in North India, on 200 healthy individuals. The study brought out some unexpected results, such as the high frequency of cystic fibrosis in Indian population. This mini-review provides a glimpse into the study and puts together the carrier frequencies of common autosomal recessive disorders as detected from other studies as well.
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