Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers

Skraastad, M. I.; Verwest, A.; Bakker, Egbert; Vlis, Maria Vegter-van der; Leeuwen-Cornelisse, Inge van; Roos, Raymund A.C.; Pearson, P. L.; Ommen, Gert‐Jan B. van

doi:10.1002/ajmg.1320390221

Cited by 23 publications

(13 citation statements)

References 29 publications

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“…We conclude that these patients had the same ancestor. The polymorphisms of D4S111 observed in these patients were different from those in the re ports from Europe [28][29][30][31][32], D4S136 has rare ly been studied [20]. The present study showed a quite obvious disequilibrium at D4S136.…”

Section: Discussionsupporting

confidence: 50%

Epidemiological and Genetic Studies of Huntington's Disease in the San-in Area of Japan

Nakashima¹,

Watanabe²,

Kusumi³

et al. 1996

Neuroepidemiology

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After the DNA diagnosis, we evaluated the prevalence of Huntington''s disease (HD) in the San-in area of Japan, and confirmed the founder effect. There were 10 patients with HD in the San-in area, who were diagnosed clinically. The expansion of the CAG repeat was observed in 9 patients with HD members in their families, although those family members of the patients had already died. In the patient who had no positive family history, expansion of the CAG repeat was not seen. The prevalence of HD was 0.65/100,000 in this area. The common haplotype studied by the polymorphism marker of D4S136 was shown in all 9 HD patients, although they were observed in only 2.7% of the normal population. These results suggested a common ancestor of these HD patients.

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Section: Discussionsupporting

confidence: 50%

Epidemiological and Genetic Studies of Huntington's Disease in the San-in Area of Japan

Nakashima¹,

Watanabe²,

Kusumi³

et al. 1996

Neuroepidemiology

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“…Half of them would accept termination of pregnancy in the case of an increased risk of HD (Tibben et al, 1993a,b). As reported in earlier series Fahy et al, 1989;Brock et al, 1989;Skraastad et al, 1991;Adam et al, 1993;Quaid and Morris, 1993) the number of prenatal tests per year in Leiden and The Netherlands (Fig. 2) show fluctuation, after an initial increase up to 1994, but still are small.…”

Section: Discussionsupporting

confidence: 49%

Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997)

et al. 1999

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“…We have tried to capture all published data on allelic association with HD (9,(12)(13)(14)(15)(16). Results on the same marker with different restriction enzymes have been pooled by weighting each estimate with its information.…”

Section: Methodsmentioning

confidence: 99%

Allelic association under map error and recombinational heterogeneity: A tale of two sites

Lonjou

Collins

Ajioka

et al. 1998

Proc. Natl. Acad. Sci. U.S.A.

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Recombination acts on the genetic map, not on the physical map. On the other hand, the physical map is usually more accurate. Choice of the genetic or physical map for positional cloning by allelic association depends on the goodness of fit of data to each map under an established model. Huntington disease illustrates the usual case in which the greater reliability of physical data outweighs recombinational heterogeneity. Hemochromatosis represents an exceptional case in which unrecognized recombinational heterogeneity retarded positional cloning for a decade. The Malecot model performs well for major genes, but no approach assuming either equilibrium or disequilibrium has been validated for oligogenes contributing to common disease. In this case of greatest interest, the power of allelic association relative to linkage is less clear than for major genes.Linkage is measured by sex-specific recombination between two loci, without regard to genotype. Allelic association is measured by dependence of allelic frequencies at two loci, without regard to sex-specific recombination. We are interested in the case in which one locus is a polymorphic marker and the other locus has alleles that affect susceptibility to a particular disease but have not yet been characterized. In a dense marker map, the distance between the disease gene and the closest marker can approach zero. Then under simple assumptions, maximal association is expected to occur at the same location as minimal recombination. These two independent sources of information may be efficiently combined to identify a small candidate region for the disease gene preparatory to positional cloning and sequencing (1, 2). The relative efficiency of linkage and allelic association depends on map accuracy and density, sample composition, evolutionary history of disease genes, and their frequencies and effects. Map error and recombinational heterogeneity pose problems for allelic association that are addressed here.

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Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers

Cited by 23 publications

References 29 publications

Epidemiological and Genetic Studies of Huntington's Disease in the San-in Area of Japan

Epidemiological and Genetic Studies of Huntington's Disease in the San-in Area of Japan

Experience in prenatal testing for Huntington's disease in The Netherlands: procedures, results and guidelines (1987-1997)

Allelic association under map error and recombinational heterogeneity: A tale of two sites

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