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Refrigerator mothers and beyond. The aetiology of autism Genetics. Genetics of autism. Large number of chromosome abnormalities associated with autism, familial clustering of autism is well above the normal population prevalence, twin-based studies

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Refrigerator mothers and beyond

Refrigerator mothers and beyond

The aetiology of autism

Genetics


Genetics of autism
Genetics of autism

  • Large number of chromosome abnormalities associated with autism, familial clustering of autism is well above the normal population prevalence, twin-based studies

  • Hereditability around 90% (Schizophrenia and major depression around 40-50%

  • Not simple genetic transmission Autisms rather than autism

  • Evidence from twin studies suggest an MZ to DZ concordance rate of 60%

  • The rate amongst siblings of an autistic proband is ~3%


  • Genome: 6 billion bits of information from father and mother. We have 99% similarity with only 1% difference

  • Only a small section codes for genes, the other ‘dark matter’ relating to how genes are expressed into proteins

  • Suggested that there may be up to 1,000 genes involved in autism. Genes act in an additive way (synergistic) along with the environment to produce the final phenotype


Evolution
Evolution mother. We have 99% similarity with only 1% difference

  • Twin studies have suggested that autism has high heritability. This occurs in the context of environmental risks and gene-environment interplay.

  • Autistic traits could have been subject to positive selection pressure, because the benefits of a solitary single-minded obsessive focus

  • Such individuals might have successfully traded products or their building and fixing skills. Thus acquiring resources and increasing their reproductive fitness, which could have maintained autism alleles in the gene pool


Studying the genetics of autism
Studying the genetics of autism mother. We have 99% similarity with only 1% difference

  • ‘Guided missiles’ represent experiments where there is a clear hypothesis about the role of a particular region of the chromosome or specific candidate genes

  • ‘Carpet bombs’ represent studies whereby the whole genome is looked at all at once, looking for genes/chromosomal regions that are associated with ASD. These are ‘genome-wide’ linkage or association studie


Examples
Examples mother. We have 99% similarity with only 1% difference


How might genetic variation occur
How might genetic variation occur? mother. We have 99% similarity with only 1% difference


Families
Families mother. We have 99% similarity with only 1% difference


Theme neural development
Theme: Neural development mother. We have 99% similarity with only 1% difference


Theme social behaviour
Theme: Social behaviour mother. We have 99% similarity with only 1% difference


Theme exposure to testosterone
Theme: Exposure to testosterone mother. We have 99% similarity with only 1% difference


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