The Codon 35 (A > G) (HBB: c.107A > G) at the α-β Chain Interface of the β-Globin Gene: A Silent Mutation?

Hemoglobin. 2016;40(1):56-8. doi: 10.3109/03630269.2015.1099547. Epub 2015 Nov 2.

Abstract

Tyr35β is located at the convergence of the α1β1, α1β2 and α1α2 interfaces of Hb A. We here report a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the β-globin gene was not associated with the thalassemic phenotype previously described.

Keywords: codon 35; mutation; β-globin gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • China
  • Codon
  • Female
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Point Mutation*
  • Silent Mutation*
  • beta-Globins / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • beta-Globins