A multiplex molecular assay for the detection of uniparental disomy for human chromosome 7

Electrophoresis. 2009 Jun;30(11):2008-11. doi: 10.1002/elps.200800744.

Abstract

Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. This condition is often caused by nondisjunction events during meiosis. UPD has been reported as a rare cause of the autosomal recessive disorder and aberrant expression of imprinted genes that are expressed from only one parental allele, either maternal or paternal. Maternal and/or paternal UPD for chromosome 7 is the most frequently observed UPD after UPD15. Here we developed and validated, for the first time, an effective, CE-based method for a rapid and economic detection based on two-fluorescent STR multiplexes.

MeSH terms

  • Amniotic Fluid / chemistry
  • Chromosomes, Human, Pair 7*
  • DNA / blood
  • DNA / genetics
  • Electrophoresis, Capillary / methods*
  • Female
  • Gene Frequency
  • Genetic Markers*
  • Growth Disorders / genetics
  • Humans
  • Microsatellite Repeats*
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Syndrome
  • Uniparental Disomy*

Substances

  • Genetic Markers
  • DNA