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Literature DB >> 2703241

Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.

Abstract

Thalassemia major is a rare disorder in the German population. We describe here the characterization of the beta-globin genes of a German patient homozygous for beta-thalassemia. Gene cloning and sequencing revealed a G to T transversion at the intron 1 donor site of the beta-globin gene on both chromosomes.

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Globins

Year: 1989 PMID： 2703241 DOI： 10.1007/BF00283694

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

13 in total

1. Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

Authors: C Lapoumeroulie; J Pagnier; A Bank; D Labie; R Krishnamoorthy
Journal: Biochem Biophys Res Commun Date: 1986-09-14 Impact factor: 3.575

2. Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

Authors: J C Diaz-Chico; K G Yang; T A Stoming; D G Efremov; A Kutlar; F Kutlar; M Aksoy; C Altay; A Gurgey; Y Kilinc
Journal: Blood Date: 1988-01 Impact factor: 22.113

3. Beta thalassaemia mutations in the Turkish population.

Authors: N Akar; A O Cavdar; E Dessi; A Loi; M Pirastu; A Cao
Journal: J Med Genet Date: 1987-06 Impact factor: 6.318

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. Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.

Authors: H H Kazazian; S H Orkin; A F Markham; C R Chapman; H Youssoufian; P G Waber
Journal: Nature Date: 1984 Jul 12-18 Impact factor: 49.962

Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.

1. Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site.

2. Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

3. Beta thalassaemia mutations in the Turkish population.

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. Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.

7. Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

8. DNA sequencing with chain-terminating inhibitors.

9. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing.

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

1. Mediterranean types of beta-thalassemia in the German population.

2. Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany.