Clinical Genetics

1979

DOI: 10.1111/j.1399-0004.1979.tb00857.x

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A suggestion of linkage between the Marfan syndrome and the rhesus blood group

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Abstract: The linkage relationships of the locus for the Marfan Syndrome were investigated with 19 marker loci in 17 families. Close linkage with several marker loci was excluded. There was a suggestion of linkage between the locus for the Marfan Syndrome and Rh.

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An exclusion map of Marfan syndrome.

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et al. 1990

Journal of Medical Genetics

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The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in

An exclusion map of Marfan syndrome.

¹

,

²

,

³

et al. 1990

Journal of Medical Genetics

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The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in

Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

et al. 1990

Journal of Medical Genetics

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Six large families with classical Marfan syndrome were studied using markers on chromosomes 1 and 11. Two of three families tested showed negative scores using DIS7 but a third family gave a positive score (0.92) at 0=0*1. The other chromosome 1 markers typed (MUCI, NGFB, DIS8) excluded close linkage. Negative lod scores with two chromosome 11q22 markers (DIIS84, DIIS148) excluded at least 20 cM in this area (Z= <-2), which was chosen for study as two enzymes responsible for coliagen degradation (coliagenase and stromelysin) are localised to this region.Marfan syndrome is a dominantly inherited connective tissue disorder affecting primarily the skeletal, ocular, and cardiovascular systems. The estimated prevalence is 6/100 000, with 25% of cases resulting from new

Linkage analysis in Marfan syndrome.

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et al. 1990

Journal of Medical Genetics

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