Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK
1990; Elsevier BV; Volume: 336; Issue: 8719 Linguagem: Inglês
10.1016/0140-6736(90)92338-i
ISSN1474-547X
AutoresJulie M. Old, Nermeen Varawalla, D. J. Weatherall,
Tópico(s)Hemoglobinopathies and Related Disorders
ResumoThe application of the amplification refractory mutation system (ARMS) to the detection of individual beta-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.
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