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Literature DB >> 8786081

A new base substitution in the 5' regulatory region of the human Agamma globin gene is linked with the betaS gene.

G P Patrinos¹, A Loutradi-Anagnostou, M N Papadakis.

Abstract

A new T --> A base substitution, identified inside the 5' regulatory region of the human Agamma globin gene (Agamma-499 T -->A), is reported. This nucleotide change was found to be linked in cis with the mutation producing sickle cell anemia (CD6 GAG-->GTG: betaS gene).

Entities: Disease Gene Species

Mesh：

Substances：
Globins

Year: 1996 PMID： 8786081 DOI： 10.1007/bf02185771

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

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References

7 in total

1. Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.

Authors: E Gottardi; M Losekoot; R Fodde; G Saglio; C Camaschella; L F Bernini
Journal: Br J Haematol Date: 1992-04 Impact factor: 6.998

2. Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes.

Authors: K D Lanclos; C Oner; A J Dimovski; Y C Gu; T H Huisman
Journal: Blood Date: 1991-06-01 Impact factor: 22.113

A new base substitution in the 5' regulatory region of the human Agamma globin gene is linked with the betaS gene.

1. Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.

2. Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes.

3. The origin of the sickle mutation in Greece; evidence from beta S globin gene cluster polymorphisms.

4. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

5. Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes.

6. Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.

7. DNA sequencing with chain-terminating inhibitors.