Article
Study of the single nucleotide polymorphism (SNP) at the palindromic sequence of hypersensitive site (HS)4 of the human beta-globin locus control region (LCR) in Indian population.
American journal of hematology - 1 Jan 2002
Kukreti Ritushree, B-Rao Chandrika, Das Swapan Kr, De Madhusnata, Talukder Geeta, Vaz Flavian, Verma I C, Brahmachari Samir K
Abstract excerpt
LCR, a genetic regulatory element, was examined in beta-thalassemia patients who do not show any mutation in the beta-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 significant association was observed between the G allele and occurrence of beta-thalassemia by Fisher's exact test. The AG and...
Topics
- Globins
- Homozygote
- Humans
- India
- Linkage Disequilibrium
- Locus Control Region
- Polymorphism, Single Nucleotide
- Regulatory Sequences, Nucleic Acid
- Sequence Analysis, DNA
- White People
- beta-Thalassemia