Genetic variability of the human SRD5A2 gene: Implications for public health

3^rd International Conference on Genomics & Pharmacogenomics

September 21-23, 2015 San Antonio, USA

Ratika Samtani

Amity University, India

Posters-Accepted Abstracts: J Mol Genet Med

Abstract :

Knowledge of Steroid 5 Alpha-Reductase type 2 (SRD5A2) gene mutations is expanding and its role has been implicated in various disease susceptibilities concerning reproductive health. Most mutations of the SRD5A2 gene inhibit enzyme activity which causes masculinization defects of varying degrees leading to the birth of a child with ambiguous genitalia (male pseudohermaphroditism). SRD5A2 gene mutations have also been implicated in various disease susceptibilities such as prostate cancer, isolated cases of hypospadias, micro-penis, benign prostatic hypertrophy, breast cancer, congenital adrenal hyperplasia and others. Due to the varying effect of SRD5A2 gene mutations, the phenotypic expression of patients also varies considerably. Moreover, research has revealed the tendency for specific SRD5A2 gene mutations to be passed along certain racial, ethnic and geographically isolated groups which suggests population specificity of these mutations. This information can be extremely useful for carrying out population-specific large scale screening and counseling programs for mutations and the disorders they may cause that are specific to an ethnic group.

Biography :

Email: rsamtani@amity.edu