Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population

Vidaud, Michel; Kitzis, Alain; Férec, Claude; Bozon, Dominique; Dumur, Viviane; Giraud, G; David, Fabrice; Pascal, Olivier; Auvinet, M; Morel, Yves; André, Jocelyne; Chomel, Jean Claude; Saleun, J.P.; Farriaux, J. P.; Roussel, P. A.; Labb, Annie-Claude; Dastugue, B.; Lucotte, G.; Monnier, Nicole; Foucaud, P.; Goossens, Michel; Feingold, Josué; Kaplan, Jean Claude

doi:10.1007/bf00293899

Cited by 20 publications

(6 citation statements)

References 5 publications

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“…The predictive B haplotype was found on 85% of tested CF chromosomes in our sample. This figure is comparable to those reported from other studies on North European populations (Estivill et al 1987a;Krawczak et al 1988;Weber et al 1988;Krogh Johansen et al 1989;Vidaud et al 1989). Most PI-patients in our group were homozygous for the risk haplotype B; in contrast, the majority of PS-patients carried at least one other haplotype on their CF chromosome.…”

Section: Discussionsupporting

confidence: 93%

“…The high-risk haplotype B (XV-2c, allele 1; KM.19, allele 2) was observed on 85% of CF chromosomes; this agrees with published data for Caucasian families from Germany (Krawczak et al 1988;Trefz et al 1989;Weber et al 1988), Europe (Estivill et al 1987a, b;Krogh Johansen et al 1989;Vidaud et al 1989), and North America (Beaudet et al 1989;Cutting et al 1989). In addition, allele frequencies on N chromosomes for the RFLPs 3.11 (MspI), and met H (MspI, TaqI) and met D (TaqI) did not differ significantly from data in the literature.…”

Section: Allelic Associationsupporting

confidence: 87%

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Marker haplotype association with growth in German cystic fibrosis patients

et al. 1990

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In 84 families with 101 children with cystic fibrosis (CF) and 103 unaffected siblings, the haplotype of CF chromosomes was determined with six restriction fragment length polymorphism (RFLP) markers that span the CF gene locus. Patient groups with different genotypes in the more distant flanking marker loci MET D, MET H, and D7S8 differed significantly from each other with respect to percentile height and weight, and percentage of weight for height. Patients homozygous 1-1 in met D (TaqI) and met H (TaqI) were thin and tall when homozygous 1-1 in J3.11 (MspI), and small when homozygous 2-2 in J3.11. Heterozygosity in 3.11 and met H and homozygosity 1-1 in met D segregated with the most severe growth retardation. In contrast, growth was normal in patients who were heterozygous in met D and/or had an uncommon KM.19/XV-2c haplotype. Most patients with pancreatic sufficiency and/or borderline sweat test values were carrying rare haplotypes on their CF chromosomes. Adult patients clustered in genotype groups with normal height percentile distributions. This association between haplotype and clinical severity of CF in the German population provides evidence for genetic microheterogeneity of the CF locus, either because of the existence of multiple alleles of the CF gene itself and/or because of the existence of closely linked polymorphic genes that control growth and development and hence modulate the clinical course and prognosis of CF.

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Section: Discussionsupporting

confidence: 93%

Section: Allelic Associationsupporting

confidence: 87%

Marker haplotype association with growth in German cystic fibrosis patients

et al. 1990

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“…By this time, all the authors could provide evidence for a strong haplotypic association between the CF mutation and both the D1 allele of XV2C and the E2 allele of KM19 (Estivill et al 1987bKrawczach et al 1988;Mornet et al 1988;Weber et al 1989;Mornet et al 1989;Vidaud et al 1989;Beaudet et al 1989;Cutting et al 1989). Such a strong linkage disequilibrium lead us, like many authors, to consider that most CF cases were the result of a single or predominant ancestral mutation initially associated with a B RFLP haplotype and subsequently reassociated by crossing-over with A, C or D haplotypes.…”

Section: Introductionmentioning

confidence: 99%

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

Serre¹,

Simon‐Bouy²,

Mornet³

et al. 1990

Hum Genet

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The prenatal diagnosis of cystic fibrosis is now routinely performed by using two probes tightly linked to the CF locus (XV2C and KM19). These probes have been shown to exhibit a strong linkage disequilibrium with the CF locus. Our data (103 families) have been pooled with other French data (237 families). They are consistent with the hypothesis of a unique ancestral mutation initially associated with a B (D1E2) restriction fragment length polymorphism (RFLP) haplotype, subsequently reassociated by cross-over with A, C or D haplotypes. Assuming such an hypothesis, the mutation is supposed to be 3000-6000 years old, depending on generation length and the true recombination ratio between the KM19 and CF loci. Up-to-date Spanish, Danish and Greek data are reported together with other previously published population data in order to discuss the geographic origin and age of the mutation in Europe. The action of selection in terms of heterozygote advantage and distorsion of segregation is discussed.

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“…Table 4 shows the results of the estimation using data in Vidaud et al [46] and Serre et al [31]. For comparison, we also estimated the age using single marker data.…”

Section: Cystic Fibrosis (Cf)mentioning

confidence: 99%

Estimating the Age of Mutant Disease Alleles Based on Linkage Disequilibrium

Guo

Xiong

1997

Hum Hered

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With more and more disease genes being mapped and/or cloned, there is a growing interest in dating the age of underlying mutations. The knowledge of the age of mutation is important to finely map disease genes by linkage disequilibrium mapping. It would also help us understand the origin, evolution, and dispersion of the mutant disease genes. Despite increasing interests in dating disease mutations, the development of appropriate statistical methods is largely fragmentary, and there is a lack of systematic treatment of the topic. We propose two classes of methods for estimating the age of mutant allele at the disease locus based on linked marker data. Our methods can not handle only single-locus marker data, but also multi-locus marker data as well. Moreover, our methods can be used even when the location of the disease locus is unknown, and/or when there are mutations at the marker or disease locus. We show that some previous results are special cases of our methods. We also derive a recursive equation previously obtained by Serre et al. [Hum Genet 1990;84:449-454] and provide an explicit solution to the equation. To illustrate our methods, we applied them to two groups of data sets, one is cystic fibrosis data collected from several European populations, and the other is data on several genetic diseases (diastrophic dysplasia, progressive myoclonus epilepsy, congenital chloride diarrhea, and Batten disease) all collected from the Finnish population. The former data set allows us to trace the origin and dispersion of the most common mutation for cystic fibrosis. The latter provides an opportunity to examine whether all mutations for these diseases have the same age.

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Confirmation of linkage disequilibrium between haplotype B (XV-2c, allele 1; KM-19, allele 2) and cystic fibrosis allele in the French population

Cited by 20 publications

References 5 publications

Marker haplotype association with growth in German cystic fibrosis patients

Marker haplotype association with growth in German cystic fibrosis patients

Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics

Estimating the Age of Mutant Disease Alleles Based on Linkage Disequilibrium

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