Beijing, November 8 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, a 21.9, after a series of experiments on a carrier of the hereditary disease in 2011.
The disease known as 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.
In this Haemoglobin molecule has sub-units commonly referred to as alpha and beta.
By the end of 2012 the mutant gene was identified 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 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 3 main genetic sequence databases worldwide – DNA the Databank of Japan.
The European Molecular Biology Laboratory and the GenBank at NCBI. These three organisations exchange data on a daily basis.
