Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder

Prog Neuropsychopharmacol Biol Psychiatry. 2004 Dec;28(8):1299-303. doi: 10.1016/j.pnpbp.2004.07.001.

Abstract

The anticipation phenomenon, described as either an increase in disease severity, a decrease in age at onset, or both, in successive generations, has been suggested as a possibility of genetic transmission for bipolar affective disorder. We report here investigation of the stability of intergenerational transmission of a variable number tandem repeat (VNTR) polymorphism, found in the Huntingtin interacting protein-1 related gene (HIP12/HIP1R) that is mapped to the chromosome 12q24.31 region, in nine pedigrees showing decreased age at onset in successive generations. We did not observe any allelic instability but we report a deletion that includes this VNTR polymorphism. Allelic and genotypic association studies should be undertaken to verify the involvement of HIP12/HIP1R in bipolar disorder.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Bipolar Disorder / genetics*
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 12
  • DNA-Binding Proteins / genetics*
  • Female
  • Genotype
  • Humans
  • Introns
  • Male
  • Microfilament Proteins
  • Middle Aged
  • Minisatellite Repeats / genetics*
  • Pedigree
  • Polymorphism, Genetic*
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Vesicular Transport Proteins

Substances

  • Adaptor Proteins, Signal Transducing
  • DNA-Binding Proteins
  • HIP1R protein, human
  • Microfilament Proteins
  • RNA, Messenger
  • Vesicular Transport Proteins