Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Strategies for autism candidate gene analysis.

G Barnby1, A P Monaco

  • 1Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK.

Novartis Foundation Symposium
|October 3, 2003
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Excess risk of renal allograft loss and early mortality among elderly recipients is associated with poor exercise capacity.

Clinical nephrology·2006
Same author

Rewards for organ donation: the time has come.

Kidney international·2006
Same author

Preemptive plasmapheresis and recurrence of FSGS in high-risk renal transplant recipients.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2005
Same author

Experience with sirolimus for calcineurin minimization/elimination in pancreas-after-kidney transplantation.

Transplantation proceedings·2005
Same author

Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci.

Journal of child psychology and psychiatry, and allied disciplines·2005
Same author

Cryptosporidium infection in renal transplant patients.

Clinical nephrology·2005

Researchers are closer to identifying autism susceptibility genes by analyzing genome-wide linkage data. Key regions on chromosomes 7 and 2 show promise for pinpointing genes involved in neurodevelopmental risks for autism.

Area of Science:

  • Genetics
  • Neurodevelopment
  • Autism Spectrum Disorder (ASD) research

Background:

  • Significant progress in identifying autism susceptibility genes has been made through eight whole genome linkage screens.
  • Overlapping linkage regions on chromosomes 7q22-31 and 2q32 have been consistently reported, indicating potential hotspots for autism-related genes.

Purpose of the Study:

  • To focus on identified linkage regions to find candidate genes potentially altered in neurodevelopment, increasing autism risk.
  • To address limitations in current methods like SNP-based association studies for narrowing linkage regions.
  • To screen positional candidate genes for deleterious variants in individuals with autism from large sample collections.

Main Methods:

  • Whole genome linkage screens.

Related Experiment Videos

  • Analysis of overlapping linkage regions on specific chromosomes.
  • Screening positional candidate genes for variants.
  • Targeted genotyping of candidate gene variants in multiplex families.

    • Main Results:

    • Identification of specific chromosomal regions (7q22-31 and 2q32) with replicated linkage.
    • Highlighting the need for strategies to narrow broad linkage regions.
    • Utilizing large sample collections like IMGSAC for candidate gene screening.

    Conclusions:

    • Replicated linkage regions provide a focused approach for identifying autism susceptibility genes.
    • Further research is needed to overcome limitations in current gene-finding strategies.
    • Targeted genotyping in large family samples is crucial for confirming associations between candidate genes and autism.