TY - JOUR
T1 - No association between single nucleotide polymorphisms in DLX6 and Piccolo genes at 7q21-q22 and autism
AU - Nabi, Rafiqun
AU - Zhong, Hailang
AU - Serajee, Fatema J.
AU - Mahbubul Huq, A. H.M.
PY - 2003/5/15
Y1 - 2003/5/15
N2 - 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.
AB - 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.
KW - Forebrain development
KW - Homeobox
KW - Presynaptic matrix protein
KW - Quantitative traits
UR - http://www.scopus.com/inward/record.url?scp=0042821582&partnerID=8YFLogxK
U2 - 10.1002/ajmg.b.10012
DO - 10.1002/ajmg.b.10012
M3 - Article
C2 - 12707945
AN - SCOPUS:0042821582
SN - 1552-4841
VL - 119 B
SP - 98
EP - 101
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
IS - 1
ER -