ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Study Report

Basic Info

Reference	Feng J, 19989613858
Citation	Feng J., Sobell J. L., Heston L. L., Cook E. H., Jr., Goldman D. and Sommer S. S. (1998) "Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid." Am J Med Genet, 81(2): 172-8.
Study Design
Study Type	Mutational study
Sample Size	53 ADHD patients
Predominant Ethnicity	Caucasian
Population	USA
Age Group	Children/Adolescents

Detail Info

Summary	In the present study, they examined these genes in patients with certain other neuropsychiatric disorders that may be related to dopaminergic dysregulation. The coding regions of the DRD1 and DRD5 genes were examined in 25 and 25 autistic patients, 25 and 28 attention deficit hyperactivity disorder patients, and 51 and 43 alcoholic patients, respectively. In addition, the DRD5 gene was examined in 75 schizophrenic patients to search for additional variants affecting protein structure or expression (VAPSEs). These patients were analyzed with REF (restriction endonuclease fingerprinting), a hybrid between SSCP and restriction endonuclease digestion, which allows the entire coding sequence to be screened in one lane of a gel. Approximately 800 kb of genomic sequence were examined. No sequence changes were identified in the DRD1 gene among the 101 patient samples analyzed. Two sequence changes were identified in the DRD5 gene among the 171 patient samples. These included one previously identified silent polymorphism at base pair 978 (P326P). The change was identified in patients from all disease categories and from different ethnic backgrounds. One novel missense change, L88F, occurred in transmembrane domain II at a highly conserved amino acid in all dopamine receptors as well as in alpha1- and beta-adrenergic receptors. The mutation was identified in a Caucasian male patient with autism. Further analysis is necessary to determine if this missense change is associated with a particular neuropsychiatric phenotype.
Total Sample	53 ADHD patients
Sample Collection	ADHD patients were ascertained at the University of Chicago [Cook et al., 1995].
Diagnosis Description	child or adolescent with a DSM-III-R diagnosis of ADHD made in a consensus diagnostic conference in which a child psychologist, child psychiatrist, and a developmental pediatrician presented findings from each of their evaluations
Technique	DNA was extracted as previously described [Gustafson et al., 1987]. For both the DRD1 and DRD5 genes, an initial amplification by PCR was performed. These patients were analyzed with REF (restriction endonuclease fingerprinting); End-labeling, electrophoresis, and sequencing
Result Description	No sequence changes were identified in the DRD1 gene among the 101 patient samples analyzed. Two sequence changes were identified in the DRD5 gene among the 171 patient samples. These included one previously identified silent polymorphism at base pair 978 (P326P). The change was identified in patients from all disease categories and from different ethnic backgrounds. One novel missense change, L88F, occurred in transmembrane domain II at a highly conserved amino acid in all dopamine receptors as well as in alpha1- and beta-adrenergic receptors. The mutation was identified in a Caucasian male patient with autism. Further analysis is necessary to determine if this missense change is associated with a particular neuropsychiatric phenotype.

Other variant reported by this study (count: 1)

Variant Name	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
DRD5 T978C	T/C		52 alleles were found by REF in Caucasian in total. The C al...... 52 alleles were found by REF in Caucasian in total. The C allele frequency was 26.9%. More...	This change was identified in ADHD patients.	Trend

Genes reported by this study (count: 1)