Second mutation in the earliest human

19 Dec

humanThe Genetic defect, found in the present, people of different ethnic groups (Arabs, Turks, and Jews) and causes a rare and fatal disease syndrome Imerslund-Grensbeka (IGS), appeared in 11 600 years BC. This is the conclusion, researchers from the Cancer Center at Ohio University (USA). Wide dissemination of an ancient mutation surprised scientists because it is usually mutation-founder does not go beyond the relative isolation of the population or ethnic group, in which it originated. Diagnosis of IGS – it is long, and the results can be ambiguous, because vitamin B12 deficiency may be due to different reasons,” – said one of the study’s authors, Stephen Tanner.
Our discovery opens up the possibility for a reliable diagnosis of suspected IGS, and this mutation in the genetic screening of people of Arab, Turkish and Jewish origin should be sought in the first place” – he said. Recall, IGS has been identified 50 years ago, this is a rare recessively inherited form of anemia, in which the defeat of the intestinal epithelium impaired absorption of vitamin B12. Manifest the disease, usually in the first two years of life. Children with IGS are at greater risk of infections, are more fatigue and attention deficit. If such patients do not receive regular injections of vitamin B12, they inevitably develop a fatal anemia. The mutation, which determines the development of the IGS, is the second oldest mutation. First, the occurrence of which dated from the period from 11 000 to 52 000 years ago, there was a mutation that causes cystic fibrosis

Leave a comment

Posted by on December 19, 2011 in Human


Tags: , ,

Leave a Reply

Your email address will not be published. Required fields are marked *