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Literature DB >> 2713502

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

R Spiegelberg¹, C Aulehla-Scholz, H Erlich, J Horst.

Abstract

The base composition around a recently detected deletion in the human beta-globin gene was determined by direct DNA sequencing of an enzymatically amplified DNA segment. The deletion removes 290 base pairs (bp), including the entire exon 1 and the mRNA cap site. In the vicinity of the deletion endpoints, the normal beta-globin gene contains direct and inverted repeats which may have taken part in generation of this deletion.

Entities: Disease Species

Mesh：

Substances：
Globins
DNA

Year: 1989 PMID： 2713502

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

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Cited

15 in total

1. The molecular basis of beta-thalassemia in Turkey.

Authors: A N Başak; H Ozçelik; A Ozer; A Tolun; M Aksoy; L Ağaoğlu; F Ridolfi; L Ulukutlu; N Akar; A Gürgey
Journal: Hum Genet Date: 1992-05 Impact factor: 4.132

2. Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene.

Authors: L Warnich; M J Kotze; E Langenhoven; A E Retief
Journal: Hum Genet Date: 1992-05 Impact factor: 4.132

3. Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.

Authors: C Aulehla-Scholz; S Basaran; L Agaoglu; A Arcasoy; W Holzgreve; P Miny; F Ridolfi; J Horst
Journal: Hum Genet Date: 1990-01 Impact factor: 4.132

4. Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

Authors: J Schnee; C Aulehla-Scholz; A Eigel; J Horst
Journal: Hum Genet Date: 1990-03 Impact factor: 4.132

5. Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

Authors: P I Motum; A Kearney; T J Hamilton; R J Trent
Journal: J Med Genet Date: 1993-03 Impact factor: 6.318

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

1. The molecular basis of beta-thalassemia in Turkey.

2. Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene.

3. Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.

4. Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

5. Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region.

6. A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

7. Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

8. Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

9. Molecular analysis of PKU haplotypes in the population of southern Poland.

10. Geographical distribution gradients of the major PKU mutations and the linked haplotypes.