Journal
AMERICAN JOURNAL OF HEMATOLOGY
Volume 82, Issue 11, Pages 1005-1009Publisher
WILEY-LISS
DOI: 10.1002/ajh.20979
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Funding
- NHLBI NIH HHS [5R01HL073455-02] Funding Source: Medline
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We report a novel set of genetic markers in the DNasel hypersensitive sites comprising the human P-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies in beta-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3'HS1 (+179 C>T) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in beta-thalassemia intermedia patients. In contrast, the HS-111 (+126 G>A) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3'HS1 (+179 C>T) mutation may have functional consequences in y-globin genes expression.
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