RAPID DETECTION AND PRENATAL-DIAGNOSIS OF BETA-THALASSEMIA - STUDIES IN INDIAN AND CYPRIOT POPULATIONS IN THE UK

被引:276
作者
OLD, JM [1 ]
VARAWALLA, NY [1 ]
WEATHERALL, DJ [1 ]
机构
[1] JOHN RADCLIFFE HOSP,INST MOLEC MED,NATL HAEMOGLOBINOPATHY REFERENCE LAB,OXFORD OX3 9DU,ENGLAND
关键词
D O I
10.1016/0140-6736(90)92338-I
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The application of the amplification refractory mutation system (ARMS) to the detection of individual β-thalassaemia mutations in heterozygous parents and "at risk" fetuses has been assessed in Indian and Cypriot immigrant populations in the UK. 100 first trimester prenatal diagnoses have been done, entailing the detection of 17 different mutations. The method, which allows the determination of the mutations in both parental and fetal DNA on the same day, should have wide application to the carrier detection and prenatal diagnosis of monogenic diseases with heterogeneous molecular defects. © 1990.
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页码:834 / 837
页数:4
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