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. 1996 May;33(5):432-4.
doi: 10.1136/jmg.33.5.432.

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia

L E Bernard  1 , D Chitayat, R Weksberg, M I Van Allen, S Langlois
Affiliations

Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia

L E Bernard et al. J Med Genet. 1996 May.

Abstract

X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We present linkage data using microsatellite markers on two Canadian X linked SED families, one of Norwegian descent and the other from Great Britain. In the Xp22 region, three recombination events have occurred in these families, two between markers DXS996 and DXS1043 and one between DXS999 and DXS989. One family shows a maximal lod score of 3.0 at theta = 0 with marker DXS1043 and the other family has a maximal lod score of 1.2 at theta = 0 with markers DXS1224 and DXS418. Both families therefore support the previously reported gene localisation.

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References

    1. Am J Hum Genet. 1988 Mar;42(3):498-505 - PubMed
    1. Nat Genet. 1994 Jun;7(2 Spec No):246-339 - PubMed
    1. Genomics. 1993 Oct;18(1):100-4 - PubMed
    1. Hum Genet. 1988 Dec;81(1):61-3 - PubMed

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