No evidence for the involvement of CAG/CTG repeats from within 18q21.33-q23 in bipolar disorder

• Published in: European journal of human genetics : EJHG Vol. 8; no. 5; pp. 385 - 388
• Main Authors: Goossens, D, Villafuerte, S, Tissir, F, Van Gestel, S, Claes, S, Souery, D, Massat, I, Van den Bossche, D, Van Zand, K, Mendlewicz, J, Van Broeckhoven, C, Del-Favero, J
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.05.2000
• Subjects: 5' Untranslated Regions; Alleles; Artificial chromosomes; Biochemistry; Bipolar disorder; Bipolar Disorder - genetics; Chromosome Mapping; Chromosomes, Artificial, Yeast; Chromosomes, Human, Pair 18; Coding; Deoxyribonucleic acid; DNA; Female; Genetics; Humans; Karyotyping; Male; Polyglutamine; Proteinase; Proteinase inhibitors; Serine; Serine proteinase; Serine proteinase inhibitors; Trinucleotide repeats; Trinucleotide Repeats - genetics; Yeast; Belgium; United States > US
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/sj.ejhg.5200469

We previously identified 18q21.33-q23 as a candidate region in one BP family and constructed a yeast artificial chromosome (YAC) contig map. Here, we mapped eight known CAG/CTG repeats relative to 18q21.33-q23. We also isolated four CAG/CTG repeats from within the region using CAG/CTG YAC fragmentation, one of which is located in the 5' untranslated region of the CAP2 gene coding for a brain-expressed serine proteinase inhibitor. The triplet repeats located in the 18q21.33-q23 BP candidate region showed no expanded alleles in the linked BP family nor in a BP case-control sample. Moreover, only the CAP2 triplet repeat was polymorphic but no genetic association with BP disorder was observed.