The Duffy blood group is linked to the alpha-spectrin locus in a large pedigree with autosomal dominant inheritance of Charcot-Marie-Tooth disease type 1

Hum Genet. 1988 Jan;78(1):76-8. doi: 10.1007/BF00291239.

Abstract

The alpha-spectrin locus (SPTA) on chromosome 1 maps to 1q22-q25 and alpha-spectrin specific probes detect restriction fragment length polymorphisms (RFLPs) with the endonucleases MspI and PvuII. The Duffy blood group (FY) has been mapped to the 1p21-q23 region. We found positive linkage between the alpha-spectrin and the Duffy loci with a maximal Lod score of 3.81 at theta = 0.0 using the computer program MLINK. This indicates that both loci are very closely linked and probably localized to 1q22-q23.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Group Antigens / genetics*
  • Charcot-Marie-Tooth Disease / blood
  • Charcot-Marie-Tooth Disease / genetics*
  • Chromosome Mapping
  • Duffy Blood-Group System / genetics*
  • Female
  • Genes, Dominant*
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Spectrin / genetics*

Substances

  • Blood Group Antigens
  • Duffy Blood-Group System
  • Genetic Markers
  • Spectrin