메뉴 건너뛰기




Volumn 42, Issue 3, 2009, Pages 241-246

Regional heterogeneity of β-thalassemia mutations in the multi ethnic Indian population

Author keywords

Thalassemia; India; Spectrum of mutations

Indexed keywords

ALLELE; ARTICLE; BETA THALASSEMIA; DNA SEQUENCE; DOT HYBRIDIZATION; ETHNIC DIFFERENCE; GENE DELETION; HETEROZYGOSITY; HUMAN; INDIAN; MAJOR CLINICAL STUDY; MUTATION RATE; POINT MUTATION; PRIORITY JOURNAL;

EID: 64849083131     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2008.12.006     Document Type: Article
Times cited : (58)

References (38)
  • 2
    • 64849096191 scopus 로고
    • Cooley's anaemia (Erythroblastic or Mediterranean anaemia)
    • Mukherji M. Cooley's anaemia (Erythroblastic or Mediterranean anaemia). Indian J. Pediat. 5 (1938) 1
    • (1938) Indian J. Pediat. , vol.5 , pp. 1
    • Mukherji, M.1
  • 3
    • 0007746284 scopus 로고
    • Abnormal hemoglobins in India
    • Sen N.N., Basu A.K., and Chatterjea Memorial Committee J.B. (Eds), J.B. Chatterjea Memorial Volume, Calcutta
    • Sukumaran P.K. Abnormal hemoglobins in India. In: Sen N.N., Basu A.K., and Chatterjea Memorial Committee J.B. (Eds). Trends in Haematology (1975), J.B. Chatterjea Memorial Volume, Calcutta 225-261
    • (1975) Trends in Haematology , pp. 225-261
    • Sukumaran, P.K.1
  • 4
    • 0345571290 scopus 로고
    • Sood S.K., Madan N., Colah R., Sharma S., and Apte S.V. (Eds), Indian Council of Medical Research, New Delhi
    • In: Sood S.K., Madan N., Colah R., Sharma S., and Apte S.V. (Eds). Collaborative Study of Thalassemia: Report of an ICMR Task Force Study (1993), Indian Council of Medical Research, New Delhi
    • (1993) Collaborative Study of Thalassemia: Report of an ICMR Task Force Study
  • 6
    • 0025090944 scopus 로고
    • Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK
    • Old J.M., Varawalla N.Y., and Weatherall D.J. Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 336 (1990) 834-837
    • (1990) Lancet , vol.336 , pp. 834-837
    • Old, J.M.1    Varawalla, N.Y.2    Weatherall, D.J.3
  • 7
    • 0035753755 scopus 로고    scopus 로고
    • A review on the origin and spread of deleterious mutants of the β globin gene in the Indian population
    • Das S.K., and Talukder G. A review on the origin and spread of deleterious mutants of the β globin gene in the Indian population. Homo 52 (2001) 93-109
    • (2001) Homo , vol.52 , pp. 93-109
    • Das, S.K.1    Talukder, G.2
  • 9
    • 0025887115 scopus 로고
    • The spectrum of beta- thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis
    • Varawalla N.Y., Old J.M., Sarkar R., Venkatesan R., and Weatherall D.J. The spectrum of beta- thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis. Br. J. Haematol. 78 (1991) 242-247
    • (1991) Br. J. Haematol. , vol.78 , pp. 242-247
    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3    Venkatesan, R.4    Weatherall, D.J.5
  • 11
    • 0030754149 scopus 로고    scopus 로고
    • Regional distribution of beta-thalassemia mutations in India
    • Verma I.C., Saxena R., Thomas E., and Jain P.K. Regional distribution of beta-thalassemia mutations in India. Hum. Genet. 100 (1997) 109-113
    • (1997) Hum. Genet. , vol.100 , pp. 109-113
    • Verma, I.C.1    Saxena, R.2    Thomas, E.3    Jain, P.K.4
  • 12
    • 0033847656 scopus 로고    scopus 로고
    • Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center
    • Vaz F.E., Thakur C.B., Banerjee M.K., and Gangal S.G. Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center. Hemoglobin 24 (2000) 181-194
    • (2000) Hemoglobin , vol.24 , pp. 181-194
    • Vaz, F.E.1    Thakur, C.B.2    Banerjee, M.K.3    Gangal, S.G.4
  • 14
    • 0023741186 scopus 로고
    • The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis
    • Thein S.L., Hesketh C., Wallace R.B., and Weatherall D.J. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br. J. Haematol. 70 (1988) 225-231
    • (1988) Br. J. Haematol. , vol.70 , pp. 225-231
    • Thein, S.L.1    Hesketh, C.2    Wallace, R.B.3    Weatherall, D.J.4
  • 15
    • 0025119245 scopus 로고
    • Ethnic distribution of beta-thalassaemia in the Indian subcontinent
    • Parikh P., Cotton M., Boehm C., and Kazazian Jr. H.H. Ethnic distribution of beta-thalassaemia in the Indian subcontinent. Lancet 336 8721 (1990) 1006
    • (1990) Lancet , vol.336 , Issue.8721 , pp. 1006
    • Parikh, P.1    Cotton, M.2    Boehm, C.3    Kazazian Jr., H.H.4
  • 16
    • 0026494873 scopus 로고
    • Beta-thalassaemia mutations and their linkage to beta- haplotypes in Tamil Nadu in southern India
    • Venkatesan R., Sarkar R., and Old J.M. Beta-thalassaemia mutations and their linkage to beta- haplotypes in Tamil Nadu in southern India. Clin. Genet. 42 (1992) 251-256
    • (1992) Clin. Genet. , vol.42 , pp. 251-256
    • Venkatesan, R.1    Sarkar, R.2    Old, J.M.3
  • 17
    • 0028133515 scopus 로고
    • Characterization of beta-thalassaemia mutations in 57 beta-thalassaemia families seen at Lucknow
    • Agarwal S., Naveed M., Gupta U.R., Kishore P., and Agarwal S.S. Characterization of beta-thalassaemia mutations in 57 beta-thalassaemia families seen at Lucknow. Indian J. Med. Res. 100 (1994) 106-110
    • (1994) Indian J. Med. Res. , vol.100 , pp. 106-110
    • Agarwal, S.1    Naveed, M.2    Gupta, U.R.3    Kishore, P.4    Agarwal, S.S.5
  • 18
    • 0028176094 scopus 로고
    • Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations
    • Baysal E., Sharma S., Wong S.C., Jogessar V.B., and Huisman T.H.J. Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations. Hemoglobin 18 (1994) 201-209
    • (1994) Hemoglobin , vol.18 , pp. 201-209
    • Baysal, E.1    Sharma, S.2    Wong, S.C.3    Jogessar, V.B.4    Huisman, T.H.J.5
  • 19
    • 0028142885 scopus 로고
    • Detection of beta-thalassaemia mutations in eastern Indian population by polymerase chain reaction
    • Ghosh Dastidar D., Dutta R., Gupta P., and Old J.M. Detection of beta-thalassaemia mutations in eastern Indian population by polymerase chain reaction. Indian J. Med. Res. 100 (1994) 111-114
    • (1994) Indian J. Med. Res. , vol.100 , pp. 111-114
    • Ghosh Dastidar, D.1    Dutta, R.2    Gupta, P.3    Old, J.M.4
  • 20
    • 0028244389 scopus 로고
    • The molecular basis of beta thalassaemia in Punjabi and Maharashtrian Indians includes a multilocus aetiology involving triplicated alpha-globin loci
    • Garewal G., Fearon C.W., Warren T.C., Marwaha N., Marwaha R.K., Mahadik C., and Kazazian Jr. H.H. The molecular basis of beta thalassaemia in Punjabi and Maharashtrian Indians includes a multilocus aetiology involving triplicated alpha-globin loci. Br. J. Haematol. 86 (1994) 372-376
    • (1994) Br. J. Haematol. , vol.86 , pp. 372-376
    • Garewal, G.1    Fearon, C.W.2    Warren, T.C.3    Marwaha, N.4    Marwaha, R.K.5    Mahadik, C.6    Kazazian Jr., H.H.7
  • 23
    • 0034123188 scopus 로고    scopus 로고
    • Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India
    • Agarwal S., Pradhan M., Gupta U.R., Sarwai S., and Agarwal S.S. Geographic and ethnic distribution of beta-thalassemia mutations in Uttar Pradesh, India. Hemoglobin 24 (2000) 89-97
    • (2000) Hemoglobin , vol.24 , pp. 89-97
    • Agarwal, S.1    Pradhan, M.2    Gupta, U.R.3    Sarwai, S.4    Agarwal, S.S.5
  • 24
    • 4644221510 scopus 로고    scopus 로고
    • Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene
    • Bashyam M., Bashyam L., Savithri G., Gopikrishna M., Sangal V., and Devi A. Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. J. Hum. Genet. 49 (2004) 408-413
    • (2004) J. Hum. Genet. , vol.49 , pp. 408-413
    • Bashyam, M.1    Bashyam, L.2    Savithri, G.3    Gopikrishna, M.4    Sangal, V.5    Devi, A.6
  • 25
    • 0030723189 scopus 로고    scopus 로고
    • Codon 4 ACT → ACA, codon 5 CCT → TCT and codon 6 GAG → TAG mutations in cis position : a form of thalassemia trait
    • Agarwal S., Wei I., Hattori Y., and Agarwal S. Codon 4 ACT → ACA, codon 5 CCT → TCT and codon 6 GAG → TAG mutations in cis position : a form of thalassemia trait. Am. J. Hematol. 56 (1997) 187-188
    • (1997) Am. J. Hematol. , vol.56 , pp. 187-188
    • Agarwal, S.1    Wei, I.2    Hattori, Y.3    Agarwal, S.4
  • 26
    • 0036785239 scopus 로고    scopus 로고
    • Initiation codon mutation in an Asian Indian family
    • Gupta A., Hattori Y., and Agarwal S. Initiation codon mutation in an Asian Indian family. Am. J. Hematol. 71 (2002) 134-136
    • (2002) Am. J. Hematol. , vol.71 , pp. 134-136
    • Gupta, A.1    Hattori, Y.2    Agarwal, S.3
  • 27
    • 0037477701 scopus 로고    scopus 로고
    • Molecular genetic testing of beta thalassemia patients of Indian origin and a novel 8 bp deletion mutation at codon 36/37/38/39
    • Gupta A., Hattori Y., Gupta U.R., Sarwai S., Nigam N., Singhal P., and Agarwal S. Molecular genetic testing of beta thalassemia patients of Indian origin and a novel 8 bp deletion mutation at codon 36/37/38/39. Genet. Test 7 (2003) 163-168
    • (2003) Genet. Test , vol.7 , pp. 163-168
    • Gupta, A.1    Hattori, Y.2    Gupta, U.R.3    Sarwai, S.4    Nigam, N.5    Singhal, P.6    Agarwal, S.7
  • 28
    • 0029075412 scopus 로고
    • A novel frameshift mutation causing beta-thalassemia in a Sikh
    • el-Kalla S., and Mathews A.R. A novel frameshift mutation causing beta-thalassemia in a Sikh. Hemoglobin 19 (1995) 183-189
    • (1995) Hemoglobin , vol.19 , pp. 183-189
    • el-Kalla, S.1    Mathews, A.R.2
  • 29
    • 0033730254 scopus 로고    scopus 로고
    • Rare beta-thalassemia mutations in Asian Indians
    • Agarwal S., Hattori Y., and Agarwal S.S. Rare beta-thalassemia mutations in Asian Indians. Am. J. Hematol. 65 (2000) 322-323
    • (2000) Am. J. Hematol. , vol.65 , pp. 322-323
    • Agarwal, S.1    Hattori, Y.2    Agarwal, S.S.3
  • 30
    • 0034090980 scopus 로고    scopus 로고
    • Identification of a novel frameshift beta-thalassemia mutation in an Asian Indian
    • Agarwal S., Hattori Y., and Agarwal S.S. Identification of a novel frameshift beta-thalassemia mutation in an Asian Indian. Clin. Genet. 57 (2000) 311-312
    • (2000) Clin. Genet. , vol.57 , pp. 311-312
    • Agarwal, S.1    Hattori, Y.2    Agarwal, S.S.3
  • 31
    • 0025954549 scopus 로고
    • Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants
    • Gupta R.B., Tiwary R.S., Pande P.L., Kultar F., Oner C., Oner R., and Huisman T.H.J. Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants. Hemoglobin 15 (1991) 441-458
    • (1991) Hemoglobin , vol.15 , pp. 441-458
    • Gupta, R.B.1    Tiwary, R.S.2    Pande, P.L.3    Kultar, F.4    Oner, C.5    Oner, R.6    Huisman, T.H.J.7
  • 37
    • 1342323878 scopus 로고    scopus 로고
    • Detection of rare β thalassemia mutations among Indians by denaturing gradient gel electrophoresis
    • Gorakshakar A., Phanasgaokar S., Nadkarni A., Colah R., and Mohanty D. Detection of rare β thalassemia mutations among Indians by denaturing gradient gel electrophoresis. Hemoglobin 28 (2004) 15-24
    • (2004) Hemoglobin , vol.28 , pp. 15-24
    • Gorakshakar, A.1    Phanasgaokar, S.2    Nadkarni, A.3    Colah, R.4    Mohanty, D.5
  • 38
    • 32444446314 scopus 로고    scopus 로고
    • Detection of two rare β thalassemia mutations Codon 90 (C → T) and Codon 26 (C → T) among Indians
    • Gorakshakar A., Nadkarni A., Phanasgaokar S., Colah R., and Mohanty D. Detection of two rare β thalassemia mutations Codon 90 (C → T) and Codon 26 (C → T) among Indians. Indian. J. Human Genet. 11 (2005) 76-79
    • (2005) Indian. J. Human Genet. , vol.11 , pp. 76-79
    • Gorakshakar, A.1    Nadkarni, A.2    Phanasgaokar, S.3    Colah, R.4    Mohanty, D.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.