A locus for brachydactyly type A-1 maps to chromosome 2q35-q36

Am J Hum Genet. 2000 Mar;66(3):892-903. doi: 10.1086/302806.


Brachydactyly type A-1 (BDA1) was, in 1903, the first recorded example of a human anomaly with Mendelian autosomal dominant inheritance. Two large families, the affected members of which were radiographed, were recruited in the study we describe here. Two-point linkage analysis for pedigree 1 (maximum LOD score [Zmax] 6.59 at recombination fraction [theta] 0.00) and for pedigree 2 (Zmax=5.53 at straight theta=0.00) mapped the locus for BDA1 in the two families to chromosome 2q. Haplotype analysis of pedigree 1 confined the locus for family 1 within an interval of <8.1 cM flanked by markers D2S2248 and D2S360, which was mapped to chromosome 2q35-q36 on the cytogenetic map. Haplotype analysis of pedigree 2 confined the locus for family 2 within an interval of <28. 8 cM flanked by markers GATA30E06 and D2S427, which was localized to chromosome 2q35-q37. The two families had no identical haplotype within the defined region, which suggests that the two families were not related.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Genes, Dominant / genetics
  • Genetic Variation / genetics
  • Haplotypes / genetics
  • Humans
  • Lod Score*
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Radiography
  • Recombination, Genetic / genetics
  • Software
  • Toes / abnormalities*
  • Toes / diagnostic imaging