What is it about?

Employing targeted sequencing of genetic variants in Dopamine-β-hydroxylase gene and it's activity, we were able to identify key variants that affect enzyme activity.

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Why is it important?

This study which for the first time employs targeted sequencing of Dopamine-β-hydroxylase gene and activity assay in a genetically distinct North Indian population was able to identify key genetic variants that determine Dopamine-β-hydroxylase activity.This information could help in designing inhibitors that could be used in personalised medicine.

Perspectives

Multiomic approaches such as these may harness interest in tailored therapies for personalised medicine

Dr. Toyanji Joseph Punchaichira
University of Delhi

Read the Original

This page is a summary of: Deep sequencing identifies novel regulatory variants in the distal promoter region of the dopamine-β-hydroxylase gene, Pharmacogenetics and Genomics, July 2016, Wolters Kluwer Health, DOI: 10.1097/fpc.0000000000000214.
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