Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome |
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Authors: | H.-M. Yang,T. Lund,E. Niebuhr,S. Nø rby,M. Schwartz,L. Shen |
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Affiliation: | Institute of Medical Genetics, University of Copenhagen, Denmark. |
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Abstract: | Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the localization of these loci within the deleted area. On the other hand, the region for some other X-linked loci can be excluded from the deleted area according to the absence of the characteristic symptoms of the disease and/or the presence of the hybridization signals. An interstitial deletion on the long arm of the X chromosome of a male has been characterized by high resolution banding. The karyotype of the proband is 46,Y,del(X)(pter----q21.1::q21.33----qter). The regions for 12 X-linked disease loci as well as 10 DNA probes are excluded from the deleted area, and localized either proximally or distally to the deletion. The results also reveal a controversy in the present linkage data concerning the assignment of these loci. |
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Keywords: | DNA probes: DHTR PGK EDA MNK IMD4 CMTX PLP SBMA IMDI SPG2 GLA ADFN exclusion mapping X chromosome |
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