An exclusion map of Marfan syndrome.

Blanton, Susan H.; Sarfarazi, Mansoor; Eiberg, Hans; Groote, J de; Farndon, Peter; Kilpatrick, M; Child, Anne H.; Pope, F M; Peltonen, Leena; Francomano, Clair A.

doi:10.1136/jmg.27.2.73

Cited by 29 publications

(7 citation statements)

References 10 publications

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“…The EXCLUDE program has recently been successfully used in a linkage study of Marfan disease (Blanton et al 1990). The program gave a maximal likelihood of 5.13 for chromosome 15, which was an important clue for further gene localization.…”

Section: Resultsmentioning

confidence: 99%

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

et al. 1992

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Salla disease is a lysosomal storage disorder due to impaired transport of free sialic acid across the lysosomal membrane. The clinical presentation of this autosomal recessive trait is severe psychomotor retardation from early infancy on. In order to determine the gene locus for the disease we have initiated a genetic linkage study using polymorphic gene markers in representative family material comprising about 60% of all families known to be affected with Salla disease. Here we present an exclusion map based on combined linkage data from 64 informative loci on 19 autosomes. Theoretically, at least 55% of the genome has been excluded as a locus for the disease gene, while some chromosome areas, particularly the long arm of chromosome 2, are highlighted as possible sites for the gene locus.

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Section: Resultsmentioning

confidence: 99%

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

et al. 1992

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“…By identification of regions of the genome where disease-causing genes are not likely to be located, such analyses facilitate the identification of regions where disease-causing genes are likely to be located, by a process of elimination. Exclusion analysis has been used successfully to help localize genes underlying diseases such as Marfan syndrome (Blanton et al 1990) and is especially important in studies of a list of candidate genes.…”

Section: Introductionmentioning

confidence: 99%

The Quantitative LOD Score: Test Statistic and Sample Size for Exclusion and Linkage of Quantitative Traits in Human Sibships

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Amos

Boerwinkle

1998

The American Journal of Human Genetics

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We present a test statistic, the quantitative LOD (QLOD) score, for the testing of both linkage and exclusion of quantitative-trait loci in randomly selected human sibships. As with the traditional LOD score, the boundary values of 3, for linkage, and -2, for exclusion, can be used for the QLOD score. We investigated the sample sizes required for inferring exclusion and linkage, for various combinations of linked genetic variance, total heritability, recombination distance, and sibship size, using fixed-size sampling. The sample sizes required for both linkage and exclusion were not qualitatively different and depended on the percentage of variance being linked or excluded and on the total genetic variance. Information regarding linkage and exclusion in sibships larger than size 2 increased as approximately all possible pairs n(n-1)/2 up to sibships of size 6. Increasing the recombination (theta) distance between the marker and the trait loci reduced empirically the power for both linkage and exclusion, as a function of approximately (1-2theta)4.

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“…In the next phase, an international collaborative study was formed to combine linkage data from nine laboratories in five countries and to produce an exclusion map of Marfan syndrome [20]. Individual laboratories had independently screened different sets of markers including both candidate loci and random polymorphisms in their own Marfan pedigrees.…”

Section: Random Hkage Approachmentioning

confidence: 99%

Elucidation of the gene defect in Marfan syndrome Success by two complementary research strategies

Peltonen

Kainulainen

1992

FEBS Letters

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Marfan syndrome, which is characterized by manifestations in the skeletal, ocular and cardiovascular systems, is one of the most common inherited connective‐tissue disorders. The independently performed genetic assignment of the Marfan locus and classical biochemical and immunohistochemical analyses complemented each other in the search for the Marfan gene defect and in 1991 the fibrillin gene in chromosome 15 was identified as the Marfan gene. So far, three mutations leading to the Marfan phenotype have been reported in this gene coding for a microfibrillar protein. The available data suggests a wide spectrum of different mutations of fibrillin and although mutations of the fibrillin gene account for the majority of Marfan cases, evidence also exists for locus heterogeneity in a minority of Marfan cases.

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An exclusion map of Marfan syndrome.

Cited by 29 publications

References 10 publications

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program

The Quantitative LOD Score: Test Statistic and Sample Size for Exclusion and Linkage of Quantitative Traits in Human Sibships

Elucidation of the gene defect in Marfan syndrome Success by two complementary research strategies

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