THE SPECTRUM OF BETA-THALASSEMIA IN BURMA

被引:17
作者
BROWN, JM
THEIN, SL
WEATHERALL, DJ
MAR, KM
机构
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,MOLEC HAEMATOL UNIT,MRC,OXFORD OX3 9DU,ENGLAND
[2] UNIV COLL & MIDDLESEX SCH MED,DEPT ANAT & DEV BIOL,LONDON,ENGLAND
[3] RANGOON GEN HOSP,DEPT HAEMATOL,RANGOON,MYANMAR
关键词
D O I
10.1111/j.1365-2141.1992.tb02994.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The molecular defects causing beta-thalassaemia have been analysed in 85 unrelated Burmese patients. The patients included 14 with homozygous beta-thalassaemia, 70 with HbE/beta-thalassaemia and one with HbS/beta-thalassaemia. Using a combination of allele-specific oligoprobe hybridization and direct sequencing of genomic DNA amplified by the polymerase chain reaction, 95/99 of the beta-thalassaemia alleles have been characterized. Six mutations have been identified of which three, the G-T at IVS-1 position 1, the G-C at IVS-1 position 5 and the deletion of TCTT in codons 41/42, accounted for 85% of the alleles. Despite the diversity of ethnic groups in Burma, the number of beta-thalassaemia alleles in Burma is relatively small. Thus, diagnosis of the majority of the beta-thalassaemias would be possible using a limited number of oligonucleotide probes.
引用
收藏
页码:574 / 578
页数:5
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