Same. beta. -globin gene mutation is present on nine different. beta. -thalassemia chromosomes in a Sardinian population
Journal Article
·
· Proc. Natl. Acad. Sci. U.S.A.; (United States)
The predominant ..beta..-thalassemia in Sardinia is the ..beta../sup 0/ type in which no ..beta..-globin chains are synthesized in the homozygous state. The authors determined the ..beta..-thalassemia mutations in this population by the oligonucleotide-probe method and defined the chromosome haplotypes on which the mutation resides. The same ..beta../sup 39(CAG..-->..TAG)/ nonsense mutation was found on nine different chromosome haplotypes. Although this mutation may have arisen more than once, the multiple haplotypes could also be generated by crossing over and gene conversion events. These findings underscore the frequency of mutational events in the ..beta..-globin gene region.
- Research Organization:
- Univ. of California, San Francisco
- OSTI ID:
- 5963748
- Journal Information:
- Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 84:9; ISSN PNASA
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
550401* -- Genetics-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
ANEMIAS
AUTORADIOGRAPHY
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DISEASES
GENE MUTATIONS
GENE RECOMBINATION
GENOTYPE
GLOBIN
HEMIC DISEASES
HUMAN POPULATIONS
ISOTOPES
LIGHT NUCLEI
MUTATION FREQUENCY
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
OLIGONUCLEOTIDES
ORGANIC COMPOUNDS
PATHOGENESIS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
POPULATIONS
PROTEINS
RADIOISOTOPES
SYMPTOMS
THALASSEMIA
59 BASIC BIOLOGICAL SCIENCES
ANEMIAS
AUTORADIOGRAPHY
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DISEASES
GENE MUTATIONS
GENE RECOMBINATION
GENOTYPE
GLOBIN
HEMIC DISEASES
HUMAN POPULATIONS
ISOTOPES
LIGHT NUCLEI
MUTATION FREQUENCY
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
OLIGONUCLEOTIDES
ORGANIC COMPOUNDS
PATHOGENESIS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
POPULATIONS
PROTEINS
RADIOISOTOPES
SYMPTOMS
THALASSEMIA