Mutant gene discovery will help research

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Chinese doctors have discovered and registered a new mutant gene for alpha-thalassemia, first of its kind worldwide, an advance that enriches the gene database to assist researches into cures for 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.

Thalassemia is a disease where the carrier is missing or has malfunctioning genes responsible for making hemoglobin, the blood protein that helps to carry oxygen around the body.

The hemoglobin molecule has subunits 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 U.S.-based National Center for Biotechnology Information(NCBI) and then disclosed to public on Oct.1 2013, according to Li.

There is no effective cure for alpha-thalassemia, and the discovery of the new mutation will help prevention and research into the disease while preparing theoretical basis for future gene therapy.

There are three main genetic sequence databases worldwide, which comprises the DNA Data bank of Japan(DDBJ),the European Molecular Biology Laboratory(EMBL) and GenBank at NCBI. These three organizations exchange data on a daily basis.

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