Three novel polymorphisms in the beta globin gene
A Nadkarni1, T Sakaguchi, A Gorakshakar
1Department of Hematogenetics, Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India.
Abstract:
We report on three novel polymorphisms in and around the beta globin gene. Two of them are intronic (IVS2) polymorphisms (IVS 2 nt 200-203 (-CTTT) and IVS2 82-83 (-AG)). The third is a novel G-->C substitution at nt +1707 related to the beta globin cap site. This +1707 G-->C polymorphism was detected in 23.5% of chromosomes among 140 samples from India. It seems to be a novel but common polymorphism among Indians. There was no linkage between these novel polymorphisms and any beta thalassemia mutation.
More Related Videos
Related Concept Videos
Multiple Allele Traits
Multiple Allele Traits
General Transcription Factors
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Transcription Factors


