Polymorphic pattern of the (AT)X(T)Y motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations.

Abstract:

:Nucleotide sequence analysis of the 5' beta-globin gene flanking region has been carried out for numerous homozygous beta-thalassemia patients with different mutations and of various ethnic backgrounds. Four different rearrangements were found associated with numerous beta-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 six 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)8(T)6 motif, while an (AT)8(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 gamma gene expression [G gamma and fetal hemoglobin (Hb F)] levels could be demonstrated, suggesting that variations in the (AT)X(T)Y motif are common polymorphisms.

journal_name

Am J Hematol

authors

Dimovski AJ,Adekile AD,Divoky V,Baysal E,Huisman TH

doi

10.1002/ajh.2830450108

subject

Has Abstract

pub_date

1994-01-01 00:00:00

pages

51-7

issue

1

eissn

0361-8609

issn

1096-8652

journal_volume

45

pub_type

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