| 1 | BMC Genomics 2002 Oct 3: 30 |
|---|---|
| PMID | 12392603 |
| Title | Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder: human peptide transporter (SLC15A1) and human glypican5 (GPC5). |
| Abstract | Multiple candidate regions as sites forschizophreniaand Bipolar susceptibility genes have been reported, suggesting heterogeneity of susceptibility genes or oligogenic inheritance. Linkage analysis has suggested chromosome 13q32 as one of the regions with evidence of linkage toschizophreniaand, separately, to Bipolar disorder (BP). SLC15A1 andGPC5are two of the candidate genes within an approximately 10-cM region of linkage on chromosome 13q32. In order to identify a possible role for these candidates as susceptibility genes, we performed mutation screening on the coding regions of these two genes in 7 families (n-20) affected with Bipolar disorder showing linkage to 13q32. Genomic organization revealed 23 exons in SLC15A1 and 8 exons inGPC5gene respectively. Sequencing of the exons did not reveal mutations in theGPC5gene in the 7 families affected with BP. Two polymorphic variants were discovered in the SLC15A1 gene. One was T to C substitution in the third position of codon encoding alanine at 1403 position of mRNA in exon 17, and the other was A to G substitution in the untranslated region at position 2242 of mRNA in exon 23. Mutation analysis of 2 candidate genes for Bipolar disorder on chromosome 13q32 did not identify any potentially causative mutations within the coding regions or splice junctions of the SLC15A1 orGPC5基因7家庭展示linkage to 13q32. Further studies of the regulatory regions are needed to completely exclude these genes as causative for Bipolar disorder. |
| SCZ Keywords | schizophrenia |