A novel alpha-globin gene arrangement in man - PubMed (original) (raw)

. 1980 Apr 17;284(5757):632-5.

doi: 10.1038/284632a0.

A novel alpha-globin gene arrangement in man

D R Higgs et al. Nature. 1980.

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.

PubMed Disclaimer

MeSH terms

Substances

LinkOut - more resources