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Am J Hematol. 2005 Oct;80(2):161-3.

Three novel polymorphisms in the beta globin gene.

Author information

1
Department 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.

PMID:
16184579
DOI:
10.1002/ajh.20453
[Indexed for MEDLINE]
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