More precise localization of the gene for Hunter syndrome

More precise localization of the gene for Hunter syndrome

A linkage analysis between the Hunter syndrome locus (IDS) and four polymorphic loci of the Xq27–Xq28 region, DXS105, DXS98, DXS304, and DXS52, was performed in large families. A significant lod score was obtained between DXS304 and the Hunter gene ( Z max = 6.57 at θ max = 0.0). The Hunter gene can...

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Veröffentlicht in:Genomics (San Diego, Calif.) Calif.), 1990-07, Vol.7 (3), p.358-362
Hauptverfasser: Le Guern, E., Couillin, P., Oberlé, I., Ravise, N., Boue, J.
Format: Artikel
Sprache:eng
Schlagworte:
Animals
Chromosome Mapping
Cricetinae
Female
Genes
Genetic Linkage
Genetic Markers
Humans
Hybrid Cells
Lod Score
Male
Mice
Mucopolysaccharidosis II - genetics
Pedigree
X Chromosome
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Zusammenfassung:A linkage analysis between the Hunter syndrome locus (IDS) and four polymorphic loci of the Xq27–Xq28 region, DXS105, DXS98, DXS304, and DXS52, was performed in large families. A significant lod score was obtained between DXS304 and the Hunter gene ( Z max = 6.57 at θ max = 0.0). The Hunter gene can be localized within 7 cM of this marker. In addition, the translocation breakpoint of the Hunter female case described by J. Mossman et al. (1986, Arch. Dis. Child. 58: 911–915) was localized between DXS98 and DXS304 using somatic cell hybrids. These two results are in agreement and give the following order: DXS105-DXS98-IDS-DXS304-DXS52. Probes for these marker loci can thus be used for carrier detection.
ISSN:0888-7543
1089-8646
DOI:10.1016/0888-7543(90)90169-U