No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism.
Several independent genome scans have revealed excess allele sharing in an overlapping 40 cM region of 7q21-34 in autism. DLX6 and Piccolo (PCLO) at 7q21-q22 are two positional and functional candidate genes in autism. We have investigated a single nucleotide polymorphism (SNP) in exon 4 of the PCLO gene and a SNP in intron 1 of the DLX6 gene for linkage and association in autistic disorder using both qualitative and quantitative analyses. One hundred ninety-six multiplex autistic disorder families were tested using transmission disequilibrium and two-point affected sib pair linkage analysis. We found no evidence of association or linkage with the two intragenic markers. In addition, there was also no linkage or association between language and stereotypic behavior quantitative traits in autism and the SNPs. In conclusion, our studies suggest that these two SNPs in DLX6 and PCLO genes are not in linkage disequilibrium with autism.
Nabi
Rafiqun
R
Department of Pediatrics, Wayne State University, Detroit, Michigan, USA.
Zhong
Hailang
H
Serajee
Fatema J
FJ
Huq
A H M Mahbubul
AH
D001321:Autistic Disorder / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D003598:Cytoskeletal Proteins / Q000235:genetics*; D003627:Data Interpretation, Statistical; D005192:Family Health; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns; D007806:Language Disorders; D015810:Linkage Disequilibrium; D009479:Neuropeptides / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D013239:Stereotyped Behavior
D003598:Cytoskeletal Proteins; C491014:DLX6 protein, human; D018398:Homeodomain Proteins; D009479:Neuropeptides; C498630:PCLO protein, human