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Polymorphic pattern of the (AT) x (T) y motif at −530 5′ to the β‐globin gene in over 40 patients homozygous for various β‐thalassemia mutations

1994; Wiley; Volume: 45; Issue: 1 Linguagem: Inglês

10.1002/ajh.2830450108

1096-8652

Aleksandar Dimovski, A. D. Adekile, Vladimír Divoký, E. Baysal, T. H. J. Huisman,

Acute Lymphoblastic Leukemia research

Abstract Nucieotlde sequence analysis of the 5′ β‐globin gene flanking region has been carried out for numerous homozygous β‐thalassemla patients with difterent mutations and of various ethnic backgrounds. Four different rearrangements were found associated with numerous β‐thalassemia mutations. The (AT) x (T) y repeat motif at ‐530 showed polymorphic patterns among these patients as follows: All ten IVS‐II‐1 (G→A) chromosomes and the two with the ‐87 (C→G) mutation are associated with the (AT) 9 (T) 5 rearrangement, while the 30 IVS‐I‐6 (T→C), the 16 codon 39 (C→T), the slx codon 8 (‐AA) chromosomes, and 12 chromosomes with different promoter mutations had the (AT) 7 (T) 7 motif. Six chromosomes with the promoter mutation at position − 29 (A→ G) had the (AT) 6 (T) 6 motif, while an (AT) 5 (T) 4 motif appears characteristic for two IVS‐I‐5 (G→A and G→T). No direct association between any of the (AT) x (T) y arrangements and an increased γ gene expression [ g γ and fetal hemoglobin (Hb F)] levels could be demonstrated, suggesting that variations In the (AT) x (T) y motif are common polymorphisms. © 1994 Wiley‐Liss, Inc.