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, CA (United States)
- OSTI ID:
- 5963748
- Journal Information:
- Proc. Natl. Acad. Sci. U.S.A.; (United States), Vol. 84:9
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
AUTORADIOGRAPHY
GLOBIN
GENE MUTATIONS
THALASSEMIA
PATHOGENESIS
GENE RECOMBINATION
GENOTYPE
HUMAN POPULATIONS
MUTATION FREQUENCY
OLIGONUCLEOTIDES
PHOSPHORUS 32
ANEMIAS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
DISEASES
HEMIC DISEASES
ISOTOPES
LIGHT NUCLEI
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHORUS ISOTOPES
POPULATIONS
PROTEINS
RADIOISOTOPES
SYMPTOMS
550401* - Genetics- Tracer Techniques
CHROMOSOMES
AUTORADIOGRAPHY
GLOBIN
GENE MUTATIONS
THALASSEMIA
PATHOGENESIS
GENE RECOMBINATION
GENOTYPE
HUMAN POPULATIONS
MUTATION FREQUENCY
OLIGONUCLEOTIDES
PHOSPHORUS 32
ANEMIAS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
DAYS LIVING RADIOISOTOPES
DISEASES
HEMIC DISEASES
ISOTOPES
LIGHT NUCLEI
MUTATIONS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
PHOSPHORUS ISOTOPES
POPULATIONS
PROTEINS
RADIOISOTOPES
SYMPTOMS
550401* - Genetics- Tracer Techniques