Nance-Horan syndrome: linkage analysis in a family from The Netherlands
| Autor: | E. J. M. Schuurman, A. A. B. Bergen, E.M. Bleeker-Wagemakers, J.B. ten Brink |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1994 |
| Předmět: |
Male
X Chromosome Genes Recessive Locus (genetics) Biology Cataract Exon Gene mapping Genetic linkage Genetics medicine Humans Microphthalmos Abnormalities Multiple X chromosome Nance–Horan syndrome Netherlands Tooth Abnormalities Ear Syndrome medicine.disease Pedigree Meiosis Haplotypes Female Lod Score |
| Zdroj: | Genomics, 21(1), 238-240. Academic Press Inc. |
| ISSN: | 0888-7543 |
| Popis: | Linkage analysis was carried out in a Dutch family with Nance-Horan (NH) syndrome. Close linkage without recombination between NH and the Xp loci DXS207, DXS43, and DXS365 ( z max = 3.23) was observed. Multipoint linkage analysis and the analysis of recombinations in multiple informative meioses suggest the genetic order Xcen-DMD (exon 49)-DXS451-(NH, DXS207, DXS365, DXS43)-(STS, DXF30)-Xpter. These data refine the localization of the NH locus on the distal Xp. |
| Databáze: | OpenAIRE |
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