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Structural switching/polymorphism by sequential base substitution at quasi-palindromic SNP site (G → A) in LCR of human β-globin gene cluster.

International journal of biological macromolecules - 15 Mar 2022

Nain Nishu, Singh Anju, Khan Shoaib, Kaushik Mahima, Kukreti Shrikant

Abstract excerpt

The human β-globin gene Locus Control Region (LCR), a dominant regulator of globin gene expression contains five tissue-specific DNase I-hypersensitive sites (HSs). A single nucleotide polymorphism (SNP) (A → G) present in HS4 region of locus control region (LCR), have shown a notable association between the G allele and the occurrence of β-thalassemia. This SNP site exhibiting a hairpin - duplex equilibrium...

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PMID: 34973267
DOI: 10.1016/j.ijbiomac.2021.12.142

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