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The spectrum of beta-thalassaemia in Burma. 1989

J M Brown, and S L Thein, and K M Mar, and D J Weatherall
Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, UK.

The molecular defects causing beta-thalassaemia (beta-thal) have been analyzed in 63 unrelated Burmese patients. The patients include 49 with Hb E/beta-thal, 13 with beta-thal major and 1 with Hb S/beta-thal. Using synthetic oligonucleotide probes and aided by the polymerase chain reaction 64/76 (84%) of the alleles have been characterized. To date 6 mutations have been identified. The most common mutation is the splicing defect at IVS-1 nt 1 which accounts for 32% of the alleles. Complete characterization of these alleles should aid the initiation of a prenatal diagnosis programme for beta-thalassaemia in the Burmese population.

UI MeSH Term Description Entries
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002052 Myanmar A republic of southeast Asia, northwest of Thailand, long familiar as Burma. Its capital is Yangon, formerly Rangoon. Inhabited by people of Mongolian stock and probably of Tibetan origin, by the 3d century A.D. it was settled by Hindus. The modern Burmese state was founded in the 18th century but was in conflict with the British during the 19th century. Made a crown colony of Great Britain in 1937, it was granted independence in 1947. In 1989 it became Myanmar. The name comes from myanma, meaning the strong, as applied to the Burmese people themselves. (From Webster's New Geographical Dictionary, 1988, p192 & Room, Brewer's Dictionary of Names, 1992, p367) Burma,Myanma
D005819 Genetic Markers A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D013789 Thalassemia A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. Thalassemias

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