Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q
| Autor: | Cross Gs, Young Id, J D Brook, I. Fenton, Raeburn Ja, Newbury-Ecob Ra, Terrett Ja |
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| Rok vydání: | 1994 |
| Předmět: |
Genetics
Genetic Markers Heart Defects Congenital Male Holt–Oram syndrome Chromosomes Human Pair 12 Genetic heterogeneity Chromosome Mapping Locus (genetics) Disease Syndrome Biology DNA Satellite medicine.disease Pedigree Gene mapping medicine Arm Humans Abnormalities Multiple Female Crossing Over Genetic Hand Deformities Congenital Genes Dominant |
| Zdroj: | Nature genetics. 6(4) |
| ISSN: | 1061-4036 |
| Popis: | Holt-Oram syndrome (HOS) is an autosomal dominant condition affecting the heart and upper limbs. We have sought to identify the location of this gene using microsatellite DNA markers in a linkage study. Of seven families analysed, five show linkage between HOS and markers on chromosome 12q. But the two remaining families, phenotypically indistinguishable from the others, do not show this linkage. Analysis with the computer program HOMOG indicates that HOS is a heterogeneous disease. Our analysis places one HOS locus in a 21 cM interval in the distal region of chromosome 12q. The localization of a gene for HOS, reported here, represents an important step towards a better understanding of limb and cardiac development. |
| Databáze: | OpenAIRE |
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