Chinese doctors have discovered and registered a new mutant gene for alpha-thalassemia, in a first of its kind advance worldwide that enriches the gene database to assist researchers find a cure for the genetic disease.
Li Youqiong and colleagues from the People’s Hospital of Guangxi Zhuang Autonomous Region, discovered this gene, a 21.9, after a series of experiments on a carrier of the hereditary disease in 2011, reports Xinhua.
Thalassemia is a disease in which the carrier is missing or has malfunctioning genes responsible for making haemoglobin, the blood protein that helps to carry oxygen around the body.
The haemoglobin molecule has sub-units commonly referred to as alpha and beta.
The mutant gene was identified by the end of 2012 before it was added to the GenBank database in the US-based National Centre for Biotechnology Information (NCBI) and then disclosed to the public Oct 1, 2013, according to Li.
There is no effective cure for alpha-thalassemia, and the discovery of the new mutation will help prevention of and research on the disease while preparing a theoretical basis for future gene therapy.
There are three main genetic sequence databases worldwide – DNA Databank of Japan, the European Molecular Biology Laboratory and the GenBank at NCBI. These three organisations exchange data on a daily basis.