Molecular genetic analyses of β-thalassemia in South India reveals rare mutations in the β-globin gene

Journal of Human Genetics

Volumn 49, Issue 8, 2004, Pages 408-413

  Bashyam, Murali Dharan ^a,b   Bashyam, Leena ^a,b   Savithri, Gorinabele R ^a   Gopikrishna, Munimanda ^a   Sangal, Vartul ^a   Devi, Akela Radha Rama ^a  

^a CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

globin; India; Mutation; Prenatal diagnosis; Thalassemia

Indexed keywords

BETA GLOBIN; GENOMIC DNA;

ARTICLE; BETA THALASSEMIA; BLOOD SAMPLING; CLINICAL TRIAL; CODON; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA ISOLATION; DNA SEQUENCE; DOT HYBRIDIZATION; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; INDIA; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MONOGENIC DISORDER; POLYMERASE CHAIN REACTION; POPULATION; PRENATAL DIAGNOSIS; PREVALENCE;

BETA-THALASSEMIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GLOBINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INDIA; MALE; MUTATION;

EID: 4644221510     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0169-9     Document Type: Article

References (17)

1. Agarwal S, Hattori Y, Agarwal SS (2000) Rare beta-thalassemia mutations in Asian Indians. Am J Hematol 65:322-323
2. Agarwal S, Gupta A, Gupta UR, Sarwai S, Phadke S, Agarwal SS (2003) Prenatal diagnosis in β-thalassemia: an Indian experience. Fetal Diagn Ther 18:328-332
3. Cai SP, Wall J, Kan YW, Chehab FF (1994) Reverse dot blot probes for the screening of β-thalassemia mutations in Asians and American blacks. Hum Mutat 3:59-63
4. Dastidar DG, Dutta RN, Gupta P, Old JM (1994) Detection of β-thalassemia in eastern Indian population by polymerase chain reaction. Ind J Med Res 100:111-114
5. Garewal G, Fearon CW, Warren TC, Marwah N, Marwah RK, Mahadik C, Kazazian JJ Jr (1994) The molecular basis of β-thalassemia in Punjab and Maharastrian Indians indicates a multilocus etiology involving triplicated β-globin loci. Br J Haematol 86:372-376
6. Gupta A, Hattori Y, Gupta UR, Sarwai S, Nigam N, Singhal P, Agarwal S (2003) Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39. Genet Test Summer 7:163-168
7. Gurgey A, Becsac S, Mesci L, Cakar N, Karakas U, Kutlar A, Altay C (1993) Prenatal diagnosis of sickle cell anemia using PCR and restriction enzyme Dde I. Turk J Pediatr 35:159-162
8. Kukreti R, Dash D, E VK, Chakravarty S, Das SK, De M, Talukder G (2002) Spectrum of β-thalassemia mutations and their association with allelic sequence polymorphisms at the β-globin gene cluster in an Eastern Indian population. J Hematol 70:269-277
9. Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF (1993) Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean β-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 81:239-242
10. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
11. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalshekar N, Smith JC, Markham AF (1989) The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503-2516
12. Old JM (1986) In: Davies KE (ed) Genetic analysis of the human disease: a practical approach, IRL, Oxford, pp 1-17
13. Old JM, Varawalla NY, Weatherall DJ (1990) Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 33:834-837
14. Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ (1991a) The spectrum of β-thalassemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br J Haematol 78:242-247
15. Varawalla NY, Old JM, Weatherall DJ (1991b) Rare beta-thalassaemia mutations in Asian Indians. Br J Haematol 79:640-644
16. Verma IC (1994) The challenge of genetic disorders in India. In: Molecular genetics and gene therapy-the new frontier. Scientific Communications, Amsterdam, pp 11-20
17. Verma IC, Saxena R, Thomas E, Jain PK (1997) Regional distribution of β-thalassemia mutations in India. Hum Genet 100:109-113