Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family.
A locus involved in schizophrenia and related disorders in a Puerto Rican family has previously been mapped to chromosome 5p. The maximum two-point log of the odds (LOD) score of 3.72 was obtained for marker D5S111, and increased to 4.37 by multipoint analysis, assuming autosomal dominant inheritance with 90% penetrance. Additional genotyping and haplotype analysis placed the novel locus on 5p13.2-p13.3 within the interval between markers D5S1993 and D5S631. In the current study, we saturated the interval between markers D5S1993 and D5S631 with densely spaced polymorphic markers, genotyped these markers in the most informative branch of the family, and narrowed the critical region to 2.8 Mb. G-protein-coupled receptor gene [somatostatin and angiotensin-like peptide receptor (SALPR)] is one of the candidate genes within the critical interval. Sequence analysis of the coding region and the putative promoter of somatostatin and angiotensin-like peptide receptor did not reveal functionally significant variants in affected family members, although several polymorphisms were detected.
Bespalova
Irina N
IN
Department of Psychiatry, Mount Sinai School of Medicine, New York, NY 10029, USA. irina.bespalova@mssm.edu
Angelo
Gary W
GW
Durner
Martina
M
Smith
Christopher J
CJ
Siever
Larry J
LJ
Buxbaum
Joseph D
JD
Silverman
Jeremy M
JM
D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D010375:Pedigree; D011647:Puerto Rico; D012559:Schizophrenia / Q000235:genetics*; D012569:Schizotypal Personality Disorder / Q000235:genetics*