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Molecular basis and PCR-DNA typing of the Fya/fyb blood group polymorphism |
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| Authors: | Christophe Tournamille Caroline Le Van Kim Pierre Gane Jean-Pierre Cartron Yves Colin |
| Affiliation: | (1) Inserm U 393 and CNRS URA 584, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 15 Paris Cedex, France;(2) Institute of Medical Genetics, University Hospital of Wales, Heath Park, CF4 4XW Cardiff, UK;(3) Present address: Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU Headington, Oxford, UK |
| Abstract: | Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb. |
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