Sickle cell anemia is caused by a mutation in the sixth codon of the p-globin gene. There is a vast range of severity in this disease, even among ps gene homozygotes . Five different haplotypes associated with the ps gene have been described, four in Africa (Bantu, Benin, Senegel, and Cameroon) and
Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients
✍ Scribed by Bruno Périchon; Angela Ragusa; Claudine Lapouméroulie; Alain Romand; Paolo Moi; Tohru Ikuta; Dominique Labie; Jacques Elion; Rajagopal Krishnamoorthy
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 612 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
Sequence polymorphisms within the 5'HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.
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## 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