The probability of detecting the origin of nondisjunction of autosomal trisomies

A. Chakravarti

Research output: Contribution to journalArticlepeer-review

Abstract

For studying the biology of autosomal trisomies it is necessary to establish the parental origin and meiotic stage of nondisjunction by using genetic markers. Theoretical formulas are obtained for calculating the probability of establishing (1) parental origin and meiotic stage of nondisjunction by using a centromeric marker, (2) parental origin of nondisjunction by using a noncentromeric marker, and (3) meiotic stage, given parental origin of nondisjunction. These theoretical calculations demonstrate that parental origin of nondisjunction can be identified with virtual certainty by utilizing multiple genetic markers along a chromosome arm. Centromeric markers are by themselves inefficient for determining meiotic stage of the error, but the efficiency can be considerably increased if parental origin is known with certainty. Even then, multiple centromeric markers may be necessary.

Original languageEnglish (US)
Pages (from-to)639-645
Number of pages7
JournalAmerican journal of human genetics
Volume44
Issue number5
StatePublished - 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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