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

G P Patrinos; A Loutradi-Anagnostou; M N Papadakis

doi:10.1007/BF02185771

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

Hum Genet. 1996 Mar;97(3):357-8. doi: 10.1007/BF02185771.

Authors

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

Affiliation

¹ Laikon General Hospital, Center for Thalassemia, Athens, Greece.

PMID: 8786081
DOI: 10.1007/BF02185771

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).

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Composition
Base Sequence
Genetic Linkage / genetics*
Globins / genetics*
Humans
Molecular Sequence Data

Substances

Globins