TY - JOUR
T1 - Detection of a novel DNA polymorphism in the β-globin gene cluster
AU - Semenza, G. L.
AU - Malladi, P.
AU - Surrey, S.
AU - Delgrosso, K.
AU - Poncz, M.
AU - Schwartz, E.
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
PY - 1984
Y1 - 1984
N2 - Analysis of DNA from the β-globin gene cluster in an Albanian family identified a novel RsaI site approximately 550 base pairs 5' to the β-globin gene. In this family, two chromosomes carrying otherwise identical β-globin haplotypes were found to differ at the RsaI site. Population screening demonstrated the presence and absence of the site in DNA from individuals of northern European, Mediterranean, Middle Eastern, Southeast Asian, African, and Asian Indian descent, indicating that this site is a DNA polymorphism common in many ethnic groups. The polymorphism is also present in DNA from individuals carrying different β-globin alleles. Additional nucleotide sequence changes identified in an RsaI(+) genomic clone in the region immediately 3' to the RsaI site suggest a mechanism for the randomization of the site with respect to haplotype.
AB - Analysis of DNA from the β-globin gene cluster in an Albanian family identified a novel RsaI site approximately 550 base pairs 5' to the β-globin gene. In this family, two chromosomes carrying otherwise identical β-globin haplotypes were found to differ at the RsaI site. Population screening demonstrated the presence and absence of the site in DNA from individuals of northern European, Mediterranean, Middle Eastern, Southeast Asian, African, and Asian Indian descent, indicating that this site is a DNA polymorphism common in many ethnic groups. The polymorphism is also present in DNA from individuals carrying different β-globin alleles. Additional nucleotide sequence changes identified in an RsaI(+) genomic clone in the region immediately 3' to the RsaI site suggest a mechanism for the randomization of the site with respect to haplotype.
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M3 - Article
C2 - 6327661
AN - SCOPUS:0021279244
SN - 0021-9258
VL - 259
SP - 6045
EP - 6048
JO - Journal of Biological Chemistry
JF - Journal of Biological Chemistry
IS - 10
ER -