Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein-1 related gene for anticipation in bipolar affective disorder.
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.
Provençal
Nadine
N
Neuroscience, CHUL Research Center and Laval University, CHUQ Pavillon CHUL, 2705 Boulevard Laurier, Ste-Foy, Québec, Canada G1V 4G2.
Shink
Eric
E
Harvey
Mario
M
Tremblay
Monique
M
Barden
Nicholas
N
D048868:Adaptor Proteins, Signal Transducing; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001714:Bipolar Disorder / Q000235:genetics*; D002874:Chromosome Mapping / Q000379:methods; D002881:Chromosomes, Human, Pair 12; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D008840:Microfilament Proteins; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D033921:Vesicular Transport Proteins
D048868:Adaptor Proteins, Signal Transducing; D004268:DNA-Binding Proteins; C489537:HIP1R protein, human; D008840:Microfilament Proteins; D012333:RNA, Messenger; D033921:Vesicular Transport Proteins