DETECTION OF BETA-GLOBIN AND DELTA-GLOBIN GENE-MUTATIONS BY PCR AND DIRECT DNA SEQUENCING IN AN INDIVIDUAL WITH NORMAL HBA2 BETA-THALASSEMIA

被引：0

作者：

TRENT, RJ

THEIN, SL

机构：

[1] MRC Molecular Hematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford

来源：

PATHOLOGY | 1992年 / 24卷 / 01期

基金：

英国医学研究理事会;

关键词：

BETA; DELTA-THALASSEMIA; MUTATION; DNA; PCR; SEQUENCING HBA2; RFLP; POLYMORPHISMS; GLOBIN GENE;

D O I：

10.3109/00313029209063614

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Normal HbA2 beta-thalassemia in a Greek individual was shown to be due to co-inheritance of beta and delta-thalassemias. The genetic defects were characterized by enzymatic amplification of the beta and delta-globin genes and direct genomic sequencing. Two children with a typical high HbA2 beta-thalassemia trait had inherited the beta-thalassemia allele whilst a third child had low-normal HbA2 associated with delta+ thalassemia. Segregation patterns confirmed that the delta+/beta-degrees thalassemia defects were present in trans*.

引用

页码：15 / 18

页数：4

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