A family with X-linked deafness showing linkage to the proximal Xq region of the X chromosome

Hum Genet. 1992 Nov;90(3):316-8. doi: 10.1007/BF00220090.

Abstract

Linkage analysis has been carried out in a family with severe congenital sensorineural deafness with a structural abnormality of the inner ear. Recombinations show the gene responsible for deafness in this family to lie between the loci DXS255 (Xp11.22) and DXS94 (Xq22). Close linkage was found to locus DXS159 (cpX289) in Xq12, with a LOD score of 3.155 and 0 recombination. This location is consistent with other linkage studies of X-linked deafness.

MeSH terms

  • Chromosome Mapping
  • Deafness / genetics*
  • Female
  • Genetic Linkage*
  • Heterozygote
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • X Chromosome*