A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission

Am J Hum Genet. 1999 Oct;65(4):1170-7. doi: 10.1086/302577.


A new transmission/disequilibrium-test statistic is proposed for situations in which transmission is uncertain. Such situations arise when transmission of a multilocus marker haplotype is considered, since haplotype phase is often unknown in a substantial number of instances. Even for single-locus markers, transmission is uncertain if one or both parents are missing. In both these situations, uncertainty may be reduced by the typing of further siblings, whose disease status may be unaffected or unknown. The proposed test is a score test based on a partial score function that omits the terms most influenced by hidden population stratification.

MeSH terms

  • Adult
  • Child
  • Chromosome Mapping / methods*
  • Chromosome Mapping / statistics & numerical data*
  • Genetic Markers / genetics
  • Genotype
  • Haplotypes / genetics*
  • Humans
  • Likelihood Functions
  • Linkage Disequilibrium / genetics*
  • Matched-Pair Analysis
  • Nuclear Family


  • Genetic Markers