Genomic screen and follow-up analysis for autistic disorder.
Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its underlying etiology. We have completed a genomic screen and follow-up analysis to identify potential AutD susceptibility loci. In stage one of the genome screen, 52 multiplex families (two or more AutD affected individuals/family) were genotyped with 352 genetic markers to yield an approximately 10 centimorgan (cM) grid, inclusive of the X chromosome. The selection criterion for follow-up of interesting regions was a maximum heterogeneity lod score (MLOD) or a maximum nonparametric sib pair lod score (MLS) of at least 1.0. Eight promising regions were identified on chromosomes 2, 3, 7, 15, 18, 19, and X. In the stage two follow-up study we analyzed an additional 47 multiplex families (total=99 families). Regions on chromosomes 2, 3, 7, 15, 19, and X remained interesting (MLOD> or =1.0) in stage two analysis. The peak lod score regions on chromosomes 2, 7, 15, 19, and X overlap previously reported peak linkage areas. The region on chromosome 3 is unique.
Shao
Yujun
Y
Department of Medicine and Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA.
Wolpert
Chantelle M
CM
Raiford
Kimberly L
KL
Menold
Marisa M
MM
Donnelly
Shannon L
SL
Ravan
Sarah A
SA
Bass
Meredyth P
MP
McClain
Cate
C
von Wendt
Lennart
L
Vance
Jeffery M
JM
Abramson
Ruth H
RH
Wright
Harry H
HH
Ashley-Koch
Allison
A
Gilbert
John R
JR
DeLong
Robert G
RG
Cuccaro
Michael L
ML
Pericak-Vance
Margaret A
MA
D000328:Adult; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats