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Updated: May 29, 2026
07:34
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Chromosome 9 ALS and FTD locus is probably derived from a single founder
Kin Mok1, Bryan J Traynor, Jennifer Schymick
1Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
Neurobiology of Aging
|September 20, 2011
Summary
Genetic studies reveal a shared haplotype on chromosome 9p21 associated with amyotrophic lateral sclerosis (ALS) across diverse populations. This finding suggests a single common ancestor for this form of ALS.
Area of Science:
- Genetics
- Neurodegenerative Diseases
Background:
- Recent studies identified an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms (SNPs) on chromosome 9p21.
- This genetic link has been observed in multiple populations worldwide.
Purpose of the Study:
- To determine if the chromosome 9p21 haplotype associated with ALS is consistent across different populations.
- To investigate the familial inheritance patterns of this ALS-associated genetic region.
Main Methods:
- Comparative analysis of genetic data from various populations.
- Haplotype analysis to identify shared genetic markers.
- Review of existing genetic linkage data in families affected by ALS.
Main Results:
- The specific haplotype linked to ALS on chromosome 9p21 was found to be identical across all studied populations.
- Families with prior genetic linkage to this region also shared this identical haplotype.
- The data strongly support a common origin for this genetic factor.
Conclusions:
- A single founder event is the most likely explanation for the widespread association of this chromosome 9p21 haplotype with amyotrophic lateral sclerosis.
- This finding has significant implications for understanding the genetic architecture and population history of ALS.
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