Genetic and molecular diversity in nondeletion Hb H disease. | Zendy

Douglas R. Higgs | Zendy; L. Pressley | Zendy; B. Aldridge | Zendy; J. B. Clegg | Zendy; D. J. Weatherall | Zendy; Antonio Cao | Zendy; M. G. Hadjiminas | Zendy; C Kattamis | Zendy; A. MetaxatouMavromati | Zendy; E. A. Rachmilewitz | Zendy; T. Sophocleous | Zendy

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Genetic and molecular diversity in nondeletion Hb H disease.

Author(s) -

Douglas R. Higgs,

L. Pressley,

B. Aldridge,

J. B. Clegg,

D. J. Weatherall,

Antonio Cao,

M. G. Hadjiminas,

C Kattamis,

A. MetaxatouMavromati,

E. A. Rachmilewitz,

T. Sophocleous

Publication year - 1981

Publication title -

proceedings of the national academy of sciences

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.

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