Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23

Genomics. 2000 May 15;66(1):110-2. doi: 10.1006/geno.2000.6185.


The autosomal recessive form of nonsyndromic deafness DFNB9 has been mapped to a 2-cM region on chromosome 2p22-p23, and the responsible gene, OTOF, has been recently identified by positional cloning combined with a candidate gene approach. In the course of this gene cloning, we established a contig of yeast artificial chromosomes, bacterial artificial chromosomes, and P1 phage artificial chromosomes delimited by polymorphic markers D2S2170 and D2S170, i.e. , extending over approximately 3500 kb. Sixty expressed sequence tags or genes and 14 sequence-tagged sites, 11 of which are polymorphic, were mapped to this contig and assigned to 21 chromosomal intervals.

MeSH terms

  • Chromosomes, Human, Pair 2 / genetics*
  • Contig Mapping
  • Deafness / genetics
  • Expressed Sequence Tags
  • Family Health
  • Genetic Markers
  • Humans
  • Membrane Proteins / genetics*
  • Physical Chromosome Mapping*
  • Sequence Tagged Sites


  • Genetic Markers
  • Membrane Proteins
  • OTOF protein, human