A NOVEL BETA-THALASSEMIA MUTATION IN THE 5' UNTRANSLATED REGION OF THE BETA-GLOBIN GENE

被引：28

作者：

ATHANASSIADOU, A

PAPACHATZOPOULOU, A

ZOUMBOS, N

MANIATIS, GM

GIBBS, R

机构：

[1] UNIV PATRAS,FAC MED,DEPT INTERNAL MED,DIV HAEMATOL,PATRAI,GREECE

[2] BAYLOR COLL MED,INST MOLEC GENET,HOUSTON,TX 77030

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1994年 / 88卷 / 02期

关键词：

BETA-THALASSEMIA INTERMEDIA; BETA-GLOBIN; 5' UNTRANSLATED REGION; -T DELETION;

D O I：

10.1111/j.1365-2141.1994.tb05023.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A thymidine deletion at position +10 of the 5' untranslated region of the beta-globin gene was detected in a beta-thalassaemia intermedia patient carrying a beta degrees 39 stop codon +10(-T), was detected by automated fluorescent DNA sequencing and verified by dot-blot allele-specific hybridizations. The +10(-T) mutation is a 'silent carrier', is associated with a reduced amount of steady-state beta-globin mRNA, and establishes a connection between the 5' untranslated region Of the beta-globin gene and the regulation of its expression.

引用

页码：307 / 310

页数：4

共 19 条

[1] DNA HAPLOTYPE HETEROGENEITY OF BETA-THALASSEMIA IN GREECE - FEASIBILITY OF PRENATAL-DIAGNOSIS [J].