A novel alpha-globin gene arrangement in man

Nature. 1980 Apr 17;284(5757):632-5. doi: 10.1038/284632a0.

Abstract

The human genome has two linked alpha-globin genes on chromosome 16. Deletion of one or more of them, as occurs in alpha-thalassaemia, leads to a reduced output of alpha-globin mRNA in proportion to the number of alpha-globin genes lost. In some racial groups deletion of one of the pair of alpha-globin genes may result from unequal crossing over between the genes on homologous chromosomes by a mechanism resembling that postulated for the formation of the delta beta fusion genes of the Lepore haemoglobins. By analogy, the opposite chromosome in this cross-over should have three alpha-globin genes just as the 'anti-Lepore chromosome has three non-alpha chain genes. We describe here a Welsh family in which three members have five alpha-globn increased alpha mRNA output and it may therefore produce the phenotype of mild beta-thalassaemia.

MeSH terms

  • DNA Restriction Enzymes
  • Genes*
  • Genetic Linkage
  • Genotype
  • Globins / genetics*
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • RNA, Messenger / genetics
  • Thalassemia / genetics*

Substances

  • RNA, Messenger
  • Globins
  • DNA Restriction Enzymes