BIOMAT Database Logo BIOMAT Database Logo

Twenty-seven base pair deletion in erythrocyte band 3 protein gene responsible for Southeast Asian ovalocytosis is not common among Southeast Asians. 1998

M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Department of Biological Sciences, School of Science, University of Tokyo, Japan.

Screening for a 27-bp deletion in the band 3 protein gene that causes Southeast Asian/Melanesian ovalocytosis (SAO) was carried out using the PCR method among 15 Southeast Asian populations of Thailand (Akha, Hmong, Isaan, Red Karen, White Karen, Black Lahu, Lisu, Manni, Shan, and central Thais) and Indonesia (Bugis, Dayak, Javanese, Madurian, and Toraja). Individuals with the 27-bp deletion were identified only in the Bugis of southern Sulawesi, the Dayak of southern Borneo, and Javanese of central Java. The gene frequency of the 27-bp deletion in the general population was rather low: 0.012 and 0.013 in the Dayak and the Bugis, respectively. This restricted ethnic and geographic distribution of the 27-bp deletion suggests (1) local differentiation in the prevalence of this deletion in a given ethnic group and (2) the presence of molecular heterogeneity of SAO.

UI MeSH Term Description Entries
D008214 Lymphocytes White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS. Lymphoid Cells,Cell, Lymphoid,Cells, Lymphoid,Lymphocyte,Lymphoid Cell
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004612 Elliptocytosis, Hereditary An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. Ovalocytosis, Hereditary,Elliptocytoses, Hereditary,Hereditary Elliptocytoses,Hereditary Elliptocytosis,Hereditary Ovalocytoses,Hereditary Ovalocytosis,Ovalocytoses, Hereditary
D005260 Female Females
D005787 Gene Frequency The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION. Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D005828 Genetics, Population The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. Population Genetics
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis.
December 1991, Proceedings of the National Academy of Sciences of the United States of America,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Twenty seven nucleotide deletion within exon 11 of the erythrocyte band 3 gene in Indonesian ovalocytosis.
March 1994, The Japanese journal of human genetics,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
The mutant erythrocyte band 3 protein in Southeast Asian ovalocytosis does not bind eosin-5-maleimide.
February 2009, International journal of laboratory hematology,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Malaria species and Southeast Asian ovalocytosis defined by a 27-bp deletion in the erythrocyte band 3 gene.
March 2002, The Southeast Asian journal of tropical medicine and public health,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Molecular defect of the band 3 protein in southeast Asian ovalocytosis.
November 1990, The New England journal of medicine,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
The correlation between microscopical examination and erythrocyte band 3 (AE1) gene deletion in South-east Asian ovalocytosis.
January 1998, Transactions of the Royal Society of Tropical Medicine and Hygiene,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
July 2002, Kidney international,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
Deletion of twenty seven nucleotides within exon 11 of the band 3 gene identified in ovalocytosis in Lombok Island, Indonesia.
March 1997, The Japanese journal of human genetics,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
The homozygous state for the band 3 protein mutation in Southeast Asian Ovalocytosis may be lethal.
November 1994, Blood,
M Kimura, and Y Shimizu, and W Settheetham-Ishida, and A Soemantri, and D Tiwawech, and A Romphruk, and P Duangchan, and T Ishida
A hypothesis of the erythrocyte rigidity in Southeast Asian ovalocytosis.
January 2004, Medical hypotheses,
Copied contents to your clipboard!