Multipoint genetic mapping with uniparental disomy data

Am J Hum Genet. 2000 Oct;67(4):851-61. doi: 10.1086/303072. Epub 2000 Aug 24.


Uniparental disomy (UPD) refers to the presence of two copies of a chromosome from one parent and none from the other parent. In genetic studies of UPDs, many genetic markers are usually used to identify the stage of nondisjunction that leads to UPD and to uncover the associated unusual patterns of recombinations. However, genetic information in such data has not been fully utilized because of the limitations of the existing statistical methods for UPD data. In the present article, we develop a multilocus statistical approach that has the advantages of being able to simultaneously consider all genetic markers for all individuals in the same analysis and to allow general models for the crossover process to incorporate crossover interference. In particular, for a general crossover-process model that assumes only that there exists in each interval at most one crossover, we describe how to use the expectation-maximization algorithm to examine the probability distribution of the recombination events underlying meioses leading to UPD. We can also use this flexible approach to create genetic maps based on UPD data and to inspect recombination differences between meioses exhibiting UPD and normal meioses. The proposed method has been implemented in a computer program, and we illustrate the proposed approach through its application to a set of UPD15 data.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Algorithms
  • Alleles
  • Aneuploidy*
  • Chromosome Mapping / methods*
  • Crossing Over, Genetic / genetics
  • Female
  • Genetic Markers / genetics
  • Humans
  • Likelihood Functions
  • Lod Score
  • Male
  • Meiosis / genetics
  • Models, Genetic
  • Nondisjunction, Genetic*
  • Parents
  • Pedigree
  • Software


  • Genetic Markers