Linkage analysis in X-linked adrenoleukodystrophy and application in post-and prenatal diagnosis |
| |
| Authors: | B A van Oost P M van Zandvoort W Tünte H G Brunner A J M Hoogeboom P D Maaswinkel-Mooy J Bakkeren B Hamel H H Ropers |
| |
| Institution: | (1) Institute of Human Genetics, University Hospital Nijmegen, NL-6500 HB Nijmegen, The Netherlands;(2) Department of Pediatrics, University Hospital Nijmegen, NL-6500 HB Nijmegen, The Netherlands;(3) Institut für Humangenetik der Universität, Vesaliusweg 12-14, W-4400 Münster, Germany;(4) Department of Clinical Genetics, University Hospital, NL-3000 DR Rotterdam, The Netherlands;(5) Department of Clinical Genetics, University of Leiden, NL-2300 RC Leiden, The Netherlands;(6) DNA Diagnostics Laboratory, Institute of Human Genetics, University Hospital Nijmegen, P.O. Box 9101, NL-6500 HB Nijmegen, The Netherlands |
| |
| Abstract: | Summary We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
