Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.

Literature DB >> 3021607

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.

S Huang, C Wong, S E Antonarakis, T Ro-lien, W H Lo, H H Kazazian.

Abstract

A Chinese beta +-thalassemia gene in a new haplotype was chosen for cloning and sequencing. The mutation identified was an A-G transition at position -29 in the TATA box of the beta-globin gene. This mutation has not been seen previously in Chinese but has been documented in American blacks on a different chromosomal background. This observation provides further evidence for independent origins of the same mutation in distinct ethnic groups.

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1986 PMID： 3021607 DOI： 10.1007/bf00282081

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

14 in total

1. Beta-thalassemia in Chinese--analysis of polymorphic restriction site haplotypes in the beta-globin gene cluster.

Authors: S Z Huang; H H Kazazian; P G Waber; H Y Luo; R L Cai; M Q Wang
Journal: Chin Med J (Engl) Date: 1985-12 Impact factor: 2.628

Review 2. The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

Authors: S H Orkin; H H Kazazian
Journal: Annu Rev Genet Date: 1984 Impact factor: 16.830

3. Spontaneous mutation in beta-thalassaemia producing the same nucleotide substitution as that in a common hereditary form.

Authors: F F Chehab; G R Honig; Y W Kan
Journal: Lancet Date: 1986-01-04 Impact factor: 79.321

4. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

Authors: S E Antonarakis; C D Boehm; P J Giardina; H H Kazazian
Journal: Proc Natl Acad Sci U S A Date: 1982-01 Impact factor: 11.205

5. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

Authors: S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal: Nature Date: 1982-04-15 Impact factor: 49.962

6. beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

Authors: S E Antonarakis; S H Irkin; T C Cheng; A F Scott; J P Sexton; S P Trusko; S Charache; H H Kazazian
Journal: Proc Natl Acad Sci U S A Date: 1984-02 Impact factor: 11.205

7. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

Authors: T C Cheng; S H Orkin; S E Antonarakis; M J Potter; J P Sexton; A F Markham; P J Giardina; A Li; H H Kazazian
Journal: Proc Natl Acad Sci U S A Date: 1984-05 Impact factor: 11.205

10. How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter.

Authors: Mikhail Ponomarenko; Dmitry Rasskazov; Olga Arkova; Petr Ponomarenko; Valentin Suslov; Ludmila Savinkova; Nikolay Kolchanov
Journal: Biomed Res Int Date: 2015-10-04 Impact factor: 3.411

10 in total

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.

1. Beta-thalassemia in Chinese--analysis of polymorphic restriction site haplotypes in the beta-globin gene cluster.

Review 2. The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

3. Spontaneous mutation in beta-thalassaemia producing the same nucleotide substitution as that in a common hereditary form.

4. Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

5. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

6. beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

7. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

8. DNA sequencing with chain-terminating inhibitors.

9. ATA box transcription mutation in beta-thalassemia.

10. Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

1. The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.

2. A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient.

3. Medical genetics in China.

4. A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia.

5. New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

Review 6. Molecular basis of β thalassemia and potential therapeutic targets.

Review 7. The molecular basis of β-thalassemia.

8. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

9. TBP binding and the rate of transcription initiation from the human beta-globin gene.

10. How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter.