Choroideremia: linkage analysis with physically mapped close DNA-markers |
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| Authors: | Eeva-Marja Sankila Pertti Sistonen Frans Cremers Albert de la Chapelle |
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| Institution: | (1) Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, SF-00290 Helsinki, Finland;(2) Folkhälsan Institute of Genetics, P. O. Box 819, SF-00101 Helsinki, Finland;(3) Department of Human Genetics, Radboud Hospital, University of Nijmegen, P. O. Box 9101, NL-6500 HB Nijmegen, The Netherlands;(4) Present address: Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, SF-00310 Helsinki, Finland;(5) Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, SF-00290 Helsinki, Finland |
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| Abstract: | Summary We report linkage studies in 18 choroideremia (TCD) families using four closely linked polymorphic markers. Probe pZ11, which is known to be deleted in several unrelated patients with TCD, showed no recombinations (z
max 15.63 at  = 0.00). In contrast, one recombination was observed with DXS367, which is also physically very close to TCD. Loci DXS95 and DXYS69 each showed more than one recombination with TCD. Moreover, these analyses revealed a double crossover between TCD and DXYS1, changing the previously reported very close linkage to a recombination fraction of 0.04 with a lod score of 9.93. Multipoint linkage analysis placed TCD proximal to DXS95-DXYS69 and very close to DXS367-pZ11 with almost identical multipoint lod score maxima either proximal to DXS367 (z
max= 23.43) or proximal to pZ11 (z
max=23.36). These results provide a refined linkage map around TCD and will also be useful in DNA diagnostics of the disease. |
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