The spectrum of β‐thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis
- 1 June 1991
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 78 (2), 242-247
- https://doi.org/10.1111/j.1365-2141.1991.tb04423.x
Abstract
Summary The β-thalassaemia mutations in 702 unrelated carriers originating from seven different regions of the Indian subcontinent have been characterized using allele specific priming of the polymerase chain reaction (PCR). It was possible to identify the mutations in 688 (98%) of the individuals studied. Eleven different mutations were identified, of which five common ones accounted for 93·6%; namely the ones at IVS-1 position 5 (G-C), codons 8/9 (+G), IVS-1 position 1 (G-T), codons 41/42 (-CTTT) and the 619 bp deletion at the 3’end of the gene. The mutations at IVS-2 position 1 (G-A) and codon 30 (G-C), previously undescribed in Asian Indians, were found in two and six individuals respectively. Some regional variation in the distribution of β-thalassaemia alleles was noted. These findings should prove useful for the development of a first trimester prenatal diagnosis programme based on direct detection of mutations.Keywords
This publication has 24 references indexed in Scilit:
- Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UKThe Lancet, 1990
- The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosisBritish Journal of Haematology, 1988
- The spectrum of β-thalassaemia mutations in SicilyBritish Journal of Haematology, 1988
- Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probesNature, 1986
- Control of homozygous β-thalassemia by carrier screening and antenatal diagnosis in SardiniansClinical Genetics, 1984
- Quantification of the close association between DNA haplotypes and specific β-thalassaemia mutations in MediterraneansNature, 1984
- A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicingCell, 1982
- beta zero thalassemia in Sardinia is caused by a nonsense mutation.JCI Insight, 1981
- PREVENTION OF THALASSAEMIA IN CYPRUSThe Lancet, 1981
- β-THALASSÆMIA, GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY, AND HÆMOGLOBIN D-PUNJAB IN PATHANSThe Lancet, 1968