THE SILENT CARRIER ALLELE - BETA-THALASSEMIA WITHOUT A MUTATION IN THE BETA-GLOBIN GENE OR ITS IMMEDIATE FLANKING REGIONS

被引：85

作者：

SEMENZA, GL

DELGROSSO, K

PONCZ, M

MALLADI, P

SCHWARTZ, E

SURREY, S

机构：

[1] UNIV PENN, CHILDRENS HOSP, SCH MED, DEPT PEDIAT, DIV HEMATOL, PHILADELPHIA, PA 19104 USA

[2] UNIV PENN, SCH MED, DEPT HUMAN GENET, PHILADELPHIA, PA 19104 USA

来源：

CELL | 1984年 / 39卷 / 01期

关键词：

D O I：

10.1016/0092-8674(84)90197-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A molecular genetic analysis was performed using as subjects an Albanian family in which the father is a silent carrier, the mother has high Hb A2-.beta. thalassemia trait and both children have .beta. thalassemia. Nucleotide sequence analysis of the daughter''s paternal .beta.-globin gene and its flanking regions failed to reveal any base changes of known functional significance. When introduced into HeLa cells, the gene was expressed at normal levels with proper processing of RNA. Haplotype analysis revealed that the affected son and daughter inherited different .epsilon..gamma..delta..beta.-globin gene clusters from the father. The silent carrier allele is not due to a mutation within the .beta.-globin structural gene or its flanking regions and as such represents a novel form of .beta.+ thalassemia.

引用

页码：123 / 128

页数：6

共 45 条

[31] LINKAGE OF BETA-THALASSEMIA MUTATIONS AND BETA-GLOBIN GENE POLYMORPHISMS WITH DNA POLYMORPHISMS IN HUMAN BETA-GLOBIN GENE-CLUSTER [J].