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Volumn 78, Issue 4, 2005, Pages 249-255

Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese β-thalassemia mutations

Author keywords

thalassemia; Hemoglobinopathy; Molecular genetic confirmation; Newborn screening

Indexed keywords

AFRICAN AMERICAN; ARTICLE; ASIAN; BETA THALASSEMIA; BLOOD SAMPLING; CHINESE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; ETHNOLOGY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEMOGLOBINOPATHY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; IMMIGRATION; INDIAN; ISOELECTRIC FOCUSING; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHEAST ASIA; TAIWAN; UNITED STATES;

EID: 16344366025     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.20269     Document Type: Article
Times cited : (33)

References (26)
  • 2
    • 0034320435 scopus 로고    scopus 로고
    • Asian immigration and public health in California: Thalassemia newborns in California
    • Lorey F. Asian immigration and public health in California: thalassemia newborns in California. J Pediatr Hematol Oncol 2000;22:564-566.
    • (2000) J Pediatr Hematol Oncol , vol.22 , pp. 564-566
    • Lorey, F.1
  • 3
    • 0031822683 scopus 로고    scopus 로고
    • Impact of Asian immigration on thalassemia in California
    • Lorey F, Cunningham G. Impact of Asian immigration on thalassemia in California. Ann NY Acad Sci 1998;850:442-445.
    • (1998) Ann NY Acad Sci , vol.850 , pp. 442-445
    • Lorey, F.1    Cunningham, G.2
  • 5
    • 0003829722 scopus 로고    scopus 로고
    • Atlanta, GA: CORN; September
    • Newborn Screening Committee, The Council of Regional Networks for Genetic Services (CORN). National Newborn Screening report 1995. Atlanta, GA: CORN; September 1999.
    • (1999) National Newborn Screening Report 1995
  • 7
    • 0030069010 scopus 로고    scopus 로고
    • Newborn screening for sickle cell disease: 4 Years of experience from California's newborn screening program
    • Shafer FE, Lorey F, Cunningham GC, Klumpp C, Vichinsky E, Lubin B. Newborn screening for sickle cell disease: 4 years of experience from California's newborn screening program. J Pediatr Hematol Oncol 1996;18:36-41.
    • (1996) J Pediatr Hematol Oncol , vol.18 , pp. 36-41
    • Shafer, F.E.1    Lorey, F.2    Cunningham, G.C.3    Klumpp, C.4    Vichinsky, E.5    Lubin, B.6
  • 8
    • 0026254629 scopus 로고
    • Utility of PCR for DNA analysis from dried blood spots on filter paper blotters
    • McCabe ERB. Utility of PCR for DNA analysis from dried blood spots on filter paper blotters. PCR Methods Appl 1991;1:99-106.
    • (1991) PCR Methods Appl , vol.1 , pp. 99-106
    • McCabe, E.R.B.1
  • 11
    • 0024605518 scopus 로고
    • Analysis of any point mutation in DNA: The amplification refractory mutation system (ARMS)
    • Newton CR, Graham A, Heptinstall LE, et al. Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acids Res 1989;17:2503-2516.
    • (1989) Nucleic Acids Res , vol.17 , pp. 2503-2516
    • Newton, C.R.1    Graham, A.2    Heptinstall, L.E.3
  • 12
    • 0024330475 scopus 로고
    • Prenatal diagnosis of beta thalassemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes
    • Ristaldi MS, Pirastu M, Rosatelli C, et al. Prenatal diagnosis of beta thalassemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes. Prenat Diagn 1989;9:629-638.
    • (1989) Prenat Diagn , vol.9 , pp. 629-638
    • Ristaldi, M.S.1    Pirastu, M.2    Rosatelli, C.3
  • 13
    • 0142058062 scopus 로고    scopus 로고
    • Neonatal hemoglobinopathy screening: Molecular genetic technologies
    • Bhardwaj U, Zhang Y-H, McCabe ERB. Neonatal hemoglobinopathy screening: molecular genetic technologies. Mol Genet Metab 2003;80:129-137.
    • (2003) Mol Genet Metab , vol.80 , pp. 129-137
    • Bhardwaj, U.1    Zhang, Y.-H.2    McCabe, E.R.B.3
  • 14
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayaski K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989;5:874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayaski, K.4
  • 15
    • 0025197914 scopus 로고
    • Denaturing gradient gel electrophoresis and direct sequencing of the PCR amplified genomic DNA: A rapid and reliable diagnostic approach to beta thalassemia
    • Losekoot M, Fodde R, Harteveld CL, van Heeren H, Giorano PC, Bernini LF. Denaturing gradient gel electrophoresis and direct sequencing of the PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassemia. Br J Hematol 1990;76:269-274.
    • (1990) Br J Hematol , vol.76 , pp. 269-274
    • Losekoot, M.1    Fodde, R.2    Harteveld, C.L.3    Van Heeren, H.4    Giorano, P.C.5    Bernini, L.F.6
  • 16
    • 0025090944 scopus 로고
    • Rapid detection and prenatal diagnosis of β-thalassemia. Studies in Indian and Cypriot population in the UK
    • Old JM, Varawalla NY, Weatherall DJ. Rapid detection and prenatal diagnosis of β-thalassemia. Studies in Indian and Cypriot population in the UK. Lancet 1990:336:834-837.
    • (1990) Lancet , vol.336 , pp. 834-837
    • Old, J.M.1    Varawalla, N.Y.2    Weatherall, D.J.3
  • 17
    • 0025887115 scopus 로고
    • The spectrum of β- thalassemia mutations on the Indian subcontinent: The basis of prenatal diagnosis
    • Varawalla NY, Old JM, Sarkar R, Venkatesan R, Weatherall DJ. The spectrum of β- thalassemia mutations on the Indian subcontinent: the basis of prenatal diagnosis. Br J Hematol 1991;78: 242-247.
    • (1991) Br J Hematol , vol.78 , pp. 242-247
    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3    Venkatesan, R.4    Weatherall, D.J.5
  • 18
    • 0028179231 scopus 로고
    • Molecular basis of beta thalassemia minor in Taiwan
    • Chang JG, Lin CP, Liu TC, et al. Molecular basis of beta thalassemia minor in Taiwan. Int J Hematol 1994;59:267-272.
    • (1994) Int J Hematol , vol.59 , pp. 267-272
    • Chang, J.G.1    Lin, C.P.2    Liu, T.C.3
  • 19
    • 0023006166 scopus 로고
    • The spectrum of β-thalassemia genes in China and Southeast Asia
    • Kazazian HH Jr, Dowling CE, Waber PG, Huang S, Lo WHY. The spectrum of β-thalassemia genes in China and Southeast Asia. Blood 1986;68(4):964-966.
    • (1986) Blood , vol.68 , Issue.4 , pp. 964-966
    • Kazazian Jr., H.H.1    Dowling, C.E.2    Waber, P.G.3    Huang, S.4    Lo, W.H.Y.5
  • 20
    • 0035059012 scopus 로고    scopus 로고
    • Combine-ARMS: A rapid and cost effective protocol for molecular characterization of β-thalassemia in Malaysia
    • Tan KL, Tan JAMA, Wong YC, Wee YC, Thong MK, Yap SF. Combine-ARMS: a rapid and cost effective protocol for molecular characterization of β-thalassemia in Malaysia. Genet Test 2001;5: 17-22.
    • (2001) Genet Test , vol.5 , pp. 17-22
    • Tan, K.L.1    Tan, J.A.M.A.2    Wong, Y.C.3    Wee, Y.C.4    Thong, M.K.5    Yap, S.F.6
  • 21
    • 0027370310 scopus 로고
    • Unbiased analysis of the frequency of β-thalassemia point mutations in a population of African-American newborns
    • Sylvester-Jackson DA, Page SL, White JM, et al. Unbiased analysis of the frequency of β-thalassemia point mutations in a population of African-American newborns. Arch Pathol Lab Med 1993; 117:1110-1114.
    • (1993) Arch Pathol Lab Med , vol.117 , pp. 1110-1114
    • Sylvester-Jackson, D.A.1    Page, S.L.2    White, J.M.3
  • 22
    • 0142033873 scopus 로고    scopus 로고
    • Sickle cell disease not identified by newborn screening because of prior transfusion
    • Reed W, Lane PA, Lorey F, et al. Sickle cell disease not identified by newborn screening because of prior transfusion. J Pediatr 2000;136:145-146.
    • (2000) J Pediatr , vol.136 , pp. 145-146
    • Reed, W.1    Lane, P.A.2    Lorey, F.3
  • 24
    • 0030933031 scopus 로고    scopus 로고
    • Multiplex mutagenically separated PCR: Diagnosis of β-thalassemia and hemoglobin variants
    • Chang JG, Liu HJ, Huang HM, Yang TY, Chang CP. Multiplex mutagenically separated PCR: diagnosis of β-thalassemia and hemoglobin variants. BioTechniques 1997;22:520-527.
    • (1997) BioTechniques , vol.22 , pp. 520-527
    • Chang, J.G.1    Liu, H.J.2    Huang, H.M.3    Yang, T.Y.4    Chang, C.P.5
  • 25
    • 0031958575 scopus 로고    scopus 로고
    • Rapid, efficient method for multiplex amplification from filter papers
    • Caggana M, Conroy JM, Pass KA. Rapid, efficient method for multiplex amplification from filter papers. Hum Mutat 1998;11:404-409.
    • (1998) Hum Mutat , vol.11 , pp. 404-409
    • Caggana, M.1    Conroy, J.M.2    Pass, K.A.3
  • 26
    • 0026710551 scopus 로고
    • RNA analysis from newborn screening dried blood specimens
    • Zhang Y-H, McCabe ERB. RNA analysis from newborn screening dried blood specimens. Hum Genet 1992;89:311-314.
    • (1992) Hum Genet , vol.89 , pp. 311-314
    • Zhang, Y.-H.1    McCabe, E.R.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.