Sequence Context at Human Single Nucleotide Polymorphisms: Overrepresentation of CpG Dinucleotide at Polymorphic Sites and Suppression of Variation in CpG Islands

Study of the single nucleotide polymorph

Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human β-globin locus control region (LCR) in Indian population

✍ Ritushree Kukreti; Chandrika B-Rao; Swapan Kr Das; Madhusnata De; Geeta Talukder 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 2 views

## Abstract LCR, a genetic regulatory element, was examined in β‐thalassemia patients who do not show any mutation in the β‐globin genes. We sequenced LCR‐HS2, HS3, and HS4 in samples from 16 such patients from the Indian population and found only one SNP A‐G in the inverted repeat in HS4. A signif