LOCUS ASSIGNMENT OF HUMAN ALPHA-GLOBIN MUTATIONS BY SELECTIVE AMPLIFICATION AND DIRECT SEQUENCING

被引：158

作者：

DODE, C ^{[1
]}

ROCHETTE, J ^{[1
]}

KRISHNAMOORTHY, R ^{[1
]}

机构：

[1] HOP ROBERT BEBRE,INSERM,U120,F-75019 PARIS,FRANCE

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 1990年 / 76卷 / 02期

关键词：

D O I：

10.1111/j.1365-2141.1990.tb07884.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Summary We describe a simple approach for molecular characterization and locus assignment of structural mutants by direct sequencing of enzymatically amplified DNA selective to α1 and α2 globin gene regions. Nucleotide substitution of two structural variants (Stanleyville II α278Lys and J Mexico α254Glu) were determined and their encoding loci were specified. The amplified segment encompasses sequences upstream of the CAAT box to downstream of the Poly(A) addition signal. Hence all of the α globin structural variants and most of the nondeletion α thalassaemic mutants should be characterizable by this approach. Copyright © 1990, Wiley Blackwell. All rights reserved

引用

页码：275 / 281

页数：7

共 22 条

[1]

CARIELLO NF, 1988, AM J HUM GENET, V42, P726

[2] DETECTION OF SICKLE-CELL-ANEMIA AND THALASSEMIAS [J].