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Three novel polymorphisms in the β globin gene

✍ Scribed by A. Nadkarni; T. Sakaguchi; A. Gorakshakar; S. Phanasgaonkar; R. Colah; D. Mohanty; R. Kiyama

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
96 KB
Volume
80
Category
Article
ISSN
0361-8609

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✦ Synopsis

Abstract

We report on three novel polymorphisms in and around the β 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 β 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 β thalassemia mutation. Am. J. Hematol. 80:161–163, 2005. © 2005 Wiley‐Liss, Inc.

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