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  • Title: Three novel polymorphisms in the beta globin gene.
    Author: Nadkarni A, Sakaguchi T, Gorakshakar A, Phanasgaonkar S, Colah R, Mohanty D, Kiyama R.
    Journal: Am J Hematol; 2005 Oct; 80(2):161-3. PubMed ID: 16184579.
    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.
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