ArticleAmerican journal of human genetics1996
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 82 citations in OpenAlex.
- A genome-wide screen for acrophobia susceptibility loci in a Finnish isolate.Scientific reports · 2016Article
- Detecting signatures of positive selection associated with musical aptitude in the human genome.Scientific reports · 2016Article
- Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.Human molecular genetics · 2009Article
- Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis.Annals of the rheumatic diseases · 2006Article
- Genome-wide scan for loci of Asperger syndrome.Molecular psychiatry · 2004Article
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Finnish Disease Heritage I: characteristics, causes, background.Human genetics · 2003Review
- A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27.American journal of human genetics · 2002Article
- New estimates of intergenerational time intervals for the calculation of age and origins of mutations.American journal of human genetics · 2000Article
- A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci.American journal of human genetics · 1999Article
- Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility.American journal of human genetics · 1998Article
- Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.American journal of human genetics · 1998Article
- Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.American journal of human genetics · 1998Article
- The neuronal ceroid-lipofuscinoses. Recent advances.Brain pathology (Zurich, Switzerland) · 1998Article
- Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.American journal of human genetics · 1996Article
- Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.Proceedings of the National Academy of Sciences of the United States of America · 1996Article
- Genetic homogeneity of autoimmune polyglandular disease type I.American journal of human genetics · 1996Article
- Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.American journal of human genetics · 1996Article
- Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses.Journal of inherited metabolic disease · 1996Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of childhood enriched in the western part of Finland, with a local incidence of 1 in 1500. We recently assigned the locus for vLINCL, CLN5, to 13q21.1-q32. In the present study, the haplotype analysis of Finnish CLN5 chromosomes provides evidence that one single mutation causes vLINCL in the Finnish population. Eight microsatellite markers closely linked to the CLN5 gene on chromosome 13q were analyzed, to study identity by descent by shared haplotype analysis. One single haplotype formed by flanking markers D13S160 and D13S162 in strong linkage disequilibrium (P < .0001) was present in 81% of disease-bearing chromosomes. Allele 4 at the marker locus D13S162 was detected in 94% of disease-bearing chromosomes. To evaluate the age of the CLN5 mutation by virtue of its restricted geographical distribution, church records were used to identify the common ancestors for 18 vLINCL families diagnosed in Finland. The pedigrees of the vLINCL ancestors merged on many occasions, which also supports a single founder mutation that obviously happened 20 to 30 generations ago (i.e., approximately 500 years ago) in this isolated population. Linkage disequilibrium was detected with seven markers covering an extended genetic distance of 11 cM, which further supports the young age of the CLN5 mutation. When the results of genealogical and linkage disequilibrium studies were combined, the CLN5 gene was predicted to lie approximately 200 - 400 kb (total range 30 - 1360 kb) from the closest marker D13S162.
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