Nature Genetics
6, 401 - 404 (1994)
doi:10.1038/ng0494-401
Holt−Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12qJonathan A. Terrett1, Ruth Newbury-Ecob1, Gareth S. Cross1, Iain Fenton2, J. Alexander Raeburn1, Ian D. Young1
& J. David Brook1
1Centre for Medical Genetics, City Hospital, Hucknall Road, Nottingham NG5 1PS, UK
2Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK 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 DN11A 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.
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