Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 8533170

Polygenic disease: methods for mapping complex disease traits.

D E Weeks·G M Lathrop
View original source ↗Export metadata ↓

Abstract

Improved genotyping technology has made it feasible to use a genetic approach to map genes involved in the etiology of common human diseases. We discuss here recent developments in several different statistical approaches to linkage analysis of these traits, including affected-sib-pair methods, the affected-pedigree-member method, regressive models and linkage-disequilibrium-based approaches. We discuss advantages and disadvantages of the various approaches, as well as factors influencing study design and the ability to detect loci. Statistical methodology in this area is advancing rapidly and will help enable the mapping and cloning of loci involved in susceptibility to common multifactorial diseases.

Explore related subjects

Autistic DisorderChromosome MappingChromosomes, HumanFemaleGenetic Diseases, InbornGenetic LinkageHumansLinkage DisequilibriumMaleModels, GeneticNuclear FamilyPedigreeJournal ArticleResearch Support, Non-U.S. Gov'tReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

D E Weeks, G M Lathrop. 1995. Polygenic disease: methods for mapping complex disease traits.. https://doi.org/10.1016/s0168-9525(00)89163-5

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2008

One-year change in repetitive behaviours in young children with communication disorders including autism.

Repetitive behaviours are a relatively neglected area of study in autism. Previous research has concluded that repetitive behaviour is inversely related to ability and that it tends to increase over the preschool years. One-hundred and four children ages 24-48 months, with autism, autism spectrum disorder (ASD) or other disorders, were followed for 13 months. Twelve items from the Autism Diagnostic Interview (ADI-R) were analysed, as well as diagnostic algorithm scores. Ability was related to degree of repetitive behaviours, except for one cluster of relatively able children. ADI-R repetitive behaviour algorithm scores increased over time; however, when all 12 behaviours were considered, there was a general decrease in impact upon the child's and family's activities. Reasons for this decrease are discussed.

Autistic Disorder↗
PubMed2007

Mutation screening of the ARX gene in patients with autism.

Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.

Autistic Disorder↗