Open AccessGenetic and molecular diversity in nondeletion Hb H disease.
Author(s) -
Douglas R. Higgs,
L. Pressley,
B. Aldridge,
J. B. Clegg,
David Weatherall,
Antonio Cao,
MG Hadjiminas,
C Kattamis,
A. Metaxatou-Mavromati,
Eliezer A. Rachmilewitz,
T. Sophocleous
Publication year - 1981
Publication title -
proceedings of the national academy of sciences of the united states of america
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.011
H-Index - 771
eISSN - 1091-6490
pISSN - 0027-8424
DOI - 10.1073/pnas.78.9.5833
Subject(s) - haplotype , genetics , globin , biology , thalassemia , restriction enzyme , endonuclease , gene , alpha (finance) , genetic diversity , microbiology and biotechnology , alpha globulin , allele , medicine , population , construct validity , nursing , environmental health , patient satisfaction
Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster. By using a zeta-specific probe, we defined three different types of interactions that give rise to Hb H disease, each involving a nondeletion alpha-thalassemia haplotype. mRNA analysis showed further diversity within these groups, indicating that there are at least three nondeletion determinations.