Geographic and Ethnic Distribution of β-Thalassemia Mutations in Uttar Pradesh, India
- 1 January 2000
- journal article
- research article
- Published by Taylor & Francis in Hemoglobin
- Vol. 24 (2) , 89-97
- https://doi.org/10.3109/03630260009003427
Abstract
We have studied the geographic and ethinic distribution of mutations in 376 subjects who were carriers of β-thalassemia, and identified the mutations in 365 chromosomes. The majority of the β-thalassemia carriers were of Uttar Pradesh (India) origin. Their pattern of mutations differed from the other states of India and from those families who had migrated from Pakistan. The frequency of the NS-I-5 (G→C) and 619 bp deletion mutations were 64.3 and 2.5%, respectively, among families originating from Uttar Pradesh, compared to a prevalence of 37.5 and 27.5%, respectively in the population of Pakistani immigrants. Of the 10 common Asian Indian mutations, only eight were observed in subjects studied from different parts of India. By use of the amplification refractory mutation system along with DNA sequencing techniques, the mutations were successfully identified in 97.1% of subjects, while 11 cases (2.9%) still remain to be characterized by single strand conformation polymorphism and sequencing analyses. The application of this knowledge has facilitated the successful implementation of the program of genetic counseling and prenatal diagnosis of β-tbalassemia, thus helping to avoid the birth of an affected child in India.Keywords
This publication has 15 references indexed in Scilit:
- The β-and -Thalassemia Repository (Ninth Edition; Part I)Hemoglobin, 1998
- Regional distribution of β-thalassemia mutations in IndiaHuman Genetics, 1997
- A new frameshift mutation, insertion of ATCT, at codon 48 in the β-globin gene causes β-thalassemia in an Indian probandHuman Mutation, 1994
- Rare β‐thalassaemia mutations in Asian IndiansBritish Journal of Haematology, 1991
- The spectrum of β‐thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosisBritish Journal of Haematology, 1991
- Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UKThe Lancet, 1990
- Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)Nucleic Acids Research, 1989
- The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosisBritish Journal of Haematology, 1988
- On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.Proceedings of the National Academy of Sciences, 1986
- Construction of Human Gene Libraries from Small Amounts cf Peripheral Blood: Analysis of β-Like Globin GenesHemoglobin, 1981