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Literature DB >> 6548185

The molecular basis of alpha-thalassaemia in Thailand.

P Winichagoon, D R Higgs, S E Goodbourn, J B Clegg, D J Weatherall, P Wasi.

Abstract

The molecular basis of alpha-thalassaemia has been established in 48 Thai subjects with Hb H disease and 15 with the Hb Bart's hydrops fetalis syndrome. This study has shown that in this population there are at least 18 different types of chromosome carrying seven independent alpha-thalassaemia mutations one of which is a novel deletion removing the entire alpha-globin gene complex. Although there are a limited number of alpha-thalassaemia determinants in the Thai population, there is a remarkable degree of variation in the genetic markers which flank them. These markers may be of value in establishing the evolutionary history of the alpha-thalassaemias.

Entities: Chemical

Mesh：

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Year: 1984 PMID： 6548185 PMCID： PMC557601 DOI： 10.1002/j.1460-2075.1984.tb02051.x

Source DB: PubMed Journal: EMBO J ISSN： 0261-4189 Impact factor: 11.598

28 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest.

Authors: S R Hollán; J G Szelenyi; G Brimhall; M Duerst; R T Jones; R D Koler; Z Stocklen
Journal: Nature Date: 1972-01-07 Impact factor: 49.962

3. Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.

Authors: S H Embury; R V Lebo; A M Dozy; Y W Kan
Journal: J Clin Invest Date: 1979-06 Impact factor: 14.808

4. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay.

Authors: A Deisseroth; A Nienhuis; P Turner; R Velez; W F Anderson; F Ruddle; J Lawrence; R Creagan; R Kucherlapati
Journal: Cell Date: 1977-09 Impact factor: 41.582

5. Unexpected relationships between four large deletions in the human beta-globin gene cluster.

Authors: E F Vanin; P S Henthorn; D Kioussis; F Grosveld; O Smithies
Journal: Cell Date: 1983-12 Impact factor: 41.582

6. The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.

Authors: L E Lie-Injo; A M Dozy; Y W Kan; M Lopes; D Todd
Journal: Blood Date: 1979-12 Impact factor: 22.113

7. Haemoglobin Constant Spring--a chain termination mutant?

Authors: J B Clegg; D J Weatherall; P F Milner
Journal: Nature Date: 1971-12-10 Impact factor: 49.962

8. Insertion of synthetic copies of human globin genes into bacterial plasmids.

Authors: J T Wilson; L B Wilson; J K deRiel; L Villa-komaroff; A Efstratiadis; B G Forget; S M Weissman
Journal: Nucleic Acids Res Date: 1978-02 Impact factor: 16.971

9. Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia.

Authors: J S Wainscoat; J I Bell; J M Old; D J Weatherall; M Furbetta; R Galanello; A Cao
Journal: Mol Biol Med Date: 1983-07

10. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

Authors: J Lauer; C K Shen; T Maniatis
Journal: Cell Date: 1980-05 Impact factor: 41.582

26 in total

1. Rapid, accurate genotyping of the common -alpha(4.2) thalassaemia deletion based on the use of denaturing HPLC.

Authors: H Ou-Yang; L Hua; Q H Mo; X M Xu
Journal: J Clin Pathol Date: 2004-02 Impact factor: 3.411

2. Noninvasive prenatal diagnosis for hemoglobin Bart's hydrops fetalis.

Authors: Pranee Winichagoon; Saisiri Sithongdee; Sujin Kanokpongsakdi; Pornpen Tantisirin; Luigi F Bernini; Suthat Fucharoen
Journal: Int J Hematol Date: 2005-06 Impact factor: 2.490

3. Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction.

Authors: T M Ko; L H Tseng; F J Hsieh; P M Hsu; T Y Lee
Journal: Hum Genet Date: 1992-01 Impact factor: 4.132

The molecular basis of alpha-thalassaemia in Thailand.

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

2. Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest.

3. Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.

4. Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay.

5. Unexpected relationships between four large deletions in the human beta-globin gene cluster.

6. The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.

7. Haemoglobin Constant Spring--a chain termination mutant?

8. Insertion of synthetic copies of human globin genes into bacterial plasmids.

9. Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia.

10. The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.

1. Rapid, accurate genotyping of the common -alpha(4.2) thalassaemia deletion based on the use of denaturing HPLC.

2. Noninvasive prenatal diagnosis for hemoglobin Bart's hydrops fetalis.

3. Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction.

4. Prenatal diagnosis of alpha-thalassemia by polymerase chain reaction and dual restriction enzyme analysis.

5. Rapid diagnosis of alpha-thalassemia by melting curve analysis.

6. Extremely high frequencies of alpha-globin gene deletion in Madang and on Kar Kar Island, Papua New Guinea.

7. The molecular basis of HbH disease in Taiwan.

Review 8. The molecular pathology of the alpha globin genes.

9. Molecular characterization of HbH disease in the Cuban population.

10. Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.