Repŕoduction demographique et transmission genetique dans le Nord-Est de la province de Quebec (18e–20e siecles)

Bouchard, Gérard; Laberge, Claude; Scriver, Charles R.

doi:10.1007/bf01797106

Cited by 11 publications

(5 citation statements)

References 22 publications

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“…The ARSACS locus was estimated by location-score analysis to be at 4.45 cM with a 2-LOD-unit support interval from 3.78 to 5.35 cM. 1991); therefore, Charlevoix made the major contribution to the founding of the Saguenay population (Bouchard et al 1988). The genetic epidemiology of ARSACS indicates that a founder effect occurred in the Charlevoix population (De Braekeleer et al 1993).…”

Section: D13s1285mentioning

confidence: 99%

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Richter

Rioux

Bouchard

et al. 1999

The American Journal of Human Genetics

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins.

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Section: D13s1285mentioning

confidence: 99%

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Richter

Rioux

Bouchard

et al. 1999

The American Journal of Human Genetics

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“…The French colonization of the province of Quebec began in 1608 and continued until 1760 (Charbonneau and Robert 1987). An estimated 8,000-10,000 French migrants established themselves permanently in the province Bouchard et al 1988). Many of the hereditary disorders in the French Canadian population show evidence of founder effects Dao 1994a, 1994b).…”

Section: Introductionmentioning

confidence: 99%

Founder BRCA1 and BRCA2 Mutations in French Canadian Breast and Ovarian Cancer Families

Tonin

Mes-Masson

Futreal

et al. 1998

The American Journal of Human Genetics

149

210

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We have identified four mutations in each of the breast cancer-susceptibility genes, BRCA1 and BRCA2, in French Canadian breast cancer and breast/ovarian cancer families from Quebec. To identify founder effects, we examined independently ascertained French Canadian cancer families for the distribution of these eight mutations. Mutations were found in 41 of 97 families. Six of eight mutations were observed at least twice. The BRCA1 C4446T mutation was the most common mutation found, followed by the BRCA2 8765delAG mutation. Together, these mutations were found in 28 of 41 families identified to have a mutation. The odds of detection of any of the four BRCA1 mutations was 18.7x greater if one or more cases of ovarian cancer were also present in the family. The odds of detection of any of the four BRCA2 mutations was 5.3x greater if there were at least five cases of breast cancer in the family. Interestingly, the presence of a breast cancer case <36 years of age was strongly predictive of the presence of any of the eight mutations screened. Carriers of the same mutation, from different families, shared similar haplotypes, indicating that the mutant alleles were likely to be identical by descent for a mutation in the founder population. The identification of common BRCA1 and BRCA2 mutations will facilitate carrier detection in French Canadian breast cancer and breast/ovarian cancer families.

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“…Another characteristic of the Quebec population rests on the existence of databases containing extensive demographic and genealogical information, which allows for detailed studies of founder effects and population structure. Various research projects in population genetics and historical demography have been conducted using the Quebec genealogical data, sometimes in combination with medical or genetic information (Bouchard et al 1988;Heyer and Tremblay 1995;Laberge et al 2005b;Scriver 2001). Their general aim is to understand and explain the role of demographic dynamics and population history in the contemporary frequency and distribution of gene variants in the population.…”

Section: The Quebec Populationmentioning

confidence: 99%

Genealogical Analysis of Maternal and Paternal Lineages in the Quebec Population

Tremblay

Vézina

2010

Human Biology

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The Quebec population is one of the rare populations of its size for which genealogical information is available for an uninterrupted period of almost four centuries. This allows for in-depth studies on the formation and evolution of a young founder population. Using data from two major population registers, in this study we focus on the maternal and paternal lineages (i.e., strictly female or male genealogical lines) that can be traced back within the Quebec genealogies. Through the analysis of these lineages it is possible to characterize the founders who transmitted to the contemporary population their mitochondrial (for females) and Y-chromosome (for males) DNA. The basic material consists of 2,221 ascending genealogies of subjects who married in the Quebec population between 1945 and 1965. On average, more than nine generations of ancestors were identified among the lineages. Analyses of maternal and paternal lineages show that the number of paternal founders is higher and their origins and genetic contributions are more variable than that of maternal founders, leading to a larger effective population size and greater diversity of Y chromosomes than of mtDNA. This is explained for the most part by differential migratory patterns among male and female founders of the Quebec population. Comparisons of sex-specific genetic contributions with total genetic contribution showed a strong correlation between the two values, with some discrepancies related to sex ratio differences among the founders' first descendants.

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Repŕoduction demographique et transmission genetique dans le Nord-Est de la province de Quebec (18e–20e siecles)

Cited by 11 publications

References 22 publications

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Location Score and Haplotype Analyses of the Locus for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, in Chromosome Region 13q11

Founder BRCA1 and BRCA2 Mutations in French Canadian Breast and Ovarian Cancer Families

Genealogical Analysis of Maternal and Paternal Lineages in the Quebec Population

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