메뉴 건너뛰기




Volumn 6, Issue 3, 2004, Pages 141-144

Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations

Author keywords

3120 + 1G A; African American; Carrier screening; Cystic fibrosis; G622D

Indexed keywords

DNA;

EID: 2642512392     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000127269.42279.83     Document Type: Article
Times cited : (13)

References (17)
  • 3
    • 0014687735 scopus 로고
    • Caucasian genes in American Negroes
    • Reed TE. Caucasian genes in American Negroes. Science 1969;165:762-768.
    • (1969) Science , vol.165 , pp. 762-768
    • Reed, T.E.1
  • 4
    • 0032472024 scopus 로고    scopus 로고
    • Estimating African American admixture proportions by use of population-specific alleles
    • Parra EJ, Marcini A, Akey J, Martinson J, Batzer MA, Cooper R et al. Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 1998;63:1839-1851.
    • (1998) Am J Hum Genet , vol.63 , pp. 1839-1851
    • Parra, E.J.1    Marcini, A.2    Akey, J.3    Martinson, J.4    Batzer, M.A.5    Cooper, R.6
  • 5
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995;332:1475-1480.
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillon, M.1    Casals, T.2    Mercier, B.3    Bassas, L.4    Lissens, W.5    Silber, S.6
  • 6
    • 16944366526 scopus 로고    scopus 로고
    • Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases detection rate to 75%
    • Macek M, Mackova A, Hamosh A, Hilman BC, Selden RF, Lucotte G et al. Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases detection rate to 75%. Am J Hum Genet 1997;60:1122-1127.
    • (1997) Am J Hum Genet , vol.60 , pp. 1122-1127
    • Macek, M.1    Mackova, A.2    Hamosh, A.3    Hilman, B.C.4    Selden, R.F.5    Lucotte, G.6
  • 7
    • 0035746484 scopus 로고    scopus 로고
    • Improved detection of cystic fibrosis mutations in the heterogeneous US population using an expanded, pan-ethnic mutation panel
    • Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous US population using an expanded, pan-ethnic mutation panel. Genet Med 2002;3:168-176.
    • (2002) Genet Med , vol.3 , pp. 168-176
    • Heim, R.A.1    Sugarman, E.A.2    Allitto, B.A.3
  • 8
    • 0036654506 scopus 로고    scopus 로고
    • Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples
    • Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B et al. Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples. Genet Med 2002;4:289-296.
    • (2002) Genet Med , vol.4 , pp. 289-296
    • Strom, C.M.1    Huang, D.2    Buller, A.3    Redman, J.4    Crossley, B.5    Anderson, B.6
  • 9
    • 0003452177 scopus 로고    scopus 로고
    • Toronto
    • Hospital for Sick Children, Toronto. Cystic Fibrosis Mutation Database. Available at: http://www.genet.sickkids.on.ca/cftr/
    • Cystic Fibrosis Mutation Database
  • 10
    • 0027264528 scopus 로고
    • Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients
    • Audrezet MP, Novelli G, Mercier B, Sangiuolo F, Maceratesi P, Ferec C et al. Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. Hum Hered 1993;43:295-300.
    • (1993) Hum Hered , vol.43 , pp. 295-300
    • Audrezet, M.P.1    Novelli, G.2    Mercier, B.3    Sangiuolo, F.4    Maceratesi, P.5    Ferec, C.6
  • 11
    • 0031689866 scopus 로고    scopus 로고
    • Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator
    • Vankeerberghen A, Wei L, Jaspers M, Cassiman J-J, Nilius B, Cuppens H. Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. Hum Molec Gen 1998;7: 1761-1769.
    • (1998) Hum Molec Gen , vol.7 , pp. 1761-1769
    • Vankeerberghen, A.1    Wei, L.2    Jaspers, M.3    Cassiman, J.-J.4    Nilius, B.5    Cuppens, H.6
  • 12
    • 0029100210 scopus 로고
    • Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult
    • Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M. Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. Hum Mutat 1995;6:190-191.
    • (1995) Hum Mutat , vol.6 , pp. 190-191
    • Romey, M.C.1    Desgeorges, M.2    Ray, P.3    Godard, P.4    Demaille, J.5    Claustres, M.6
  • 14
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M, Fine JP, Farrell M. Cystic fibrosis: A worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002;19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek, M.2    Fine, J.P.3    Farrell, M.4
  • 15
    • 0032929774 scopus 로고    scopus 로고
    • Cystic fibrosis carrier frequencies in populations of African origin
    • Padoa C, Goldman A, Jenkins T, Ramsay M. Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 1999;36:41-44.
    • (1999) J Med Genet , vol.36 , pp. 41-44
    • Padoa, C.1    Goldman, A.2    Jenkins, T.3    Ramsay, M.4
  • 16
    • 0036725869 scopus 로고    scopus 로고
    • The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
    • Rohlfs EM, Zhou Z, Sugarmen EA, et al. The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis. Genet Med 2002;4:319-323.
    • (2002) Genet Med , vol.4 , pp. 319-323
    • Rohlfs, E.M.1    Zhou, Z.2    Sugarmen, E.A.3
  • 17
    • 0037676283 scopus 로고    scopus 로고
    • Cystic fibrosis carrier screening: Issues in implementation
    • Watson MS, Desnick RJ, Grody WW et al. Cystic fibrosis carrier screening: issues in implementation. Genet Med 2002;4:1.
    • (2002) Genet Med , vol.4 , pp. 1
    • Watson, M.S.1    Desnick, R.J.2    Grody, W.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.