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PMID: 291015 Published · ppublish English Journal Article

Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).

Saglio G, Ricco G, Mazza U, Camaschella C, Pich PG, Gianni AM, Gianazza E, Righetti PG, Giglioni B, Comi P, Gusmeroli M, Ottolenghi S

Abstract

Isoelectric focusing, cellulose acetate electrophoresis, and carboxymethylcellulose chromatography in the presence of Nonidet P-40 allow the separation of pure gamma chains into two fractions. Amino acid analysis of their cyanogen bromide fragment 3 (gamma CB3) identifies these fractions as the separated G gamma (Gly-136) and A gamma (Ala-136) globin chains. Fingerprint and amino acid analyses of the gamma Tp9 tryptic peptide from the purified A gamma and G gamma fractions from two different patients demonstrate that the commonly occurring gamma Sardinia variant (gamma 75 isoleucine leads to threonine), also known as T gamma chain, has alanine in position 136. From this analysis we suggest that the T gamma gene is an allele of the A gamma locus (A gamma Sardinia) rather than a third gamma locus.

MeSH Terms
Alleles Amino Acid Sequence Detergents Electrophoresis, Cellulose Acetate Globins/genetics,isolation & purification Humans Isoelectric Focusing Mutation Thalassemia/blood
Chemicals
Detergents Globins
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Saglio G
Ricco G
Mazza U
Camaschella C
Pich P G
Gianni A M
Gianazza E
Righetti P G
Giglioni B
Comi P
Gusmeroli M
Ottolenghi S
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
Published
1979-07-00
Pages
3420-4
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC383837
Subset
IM
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