X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markers |
| |
Authors: | Ling-Jia Hu Jocelyn Laporte Petra Kioschis Sandra Heyberger Christine Kretz Annemarie Poustka Jean-Louis Mandel N Dahl |
| |
Institution: | (1) Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, F-67404 Illkirch Cedex, Strasbourg, France, FR;(2) Deutsches Krebsforschungszentrum, Abteilung Molekulare Genomaanalyse, Im Neuenheimer Feld 280, D-69120 Heidelberg, Germany, DE;(3) Department of Clinical Genetics, Uppsala University Children’s Hospital, S-751 85 Uppsala, Sweden Fax: +46-18-554025, SE |
| |
Abstract: | We have recently refined the localization of the myotubular myopathy (MTM1) gene to a 430-kb region between DXS304 and DXS1345
in proximal Xq28. We report two new polymorphic microsatellite markers, DXS8377 and DXS7423, that were physically mapped within
the critical interval. A recombination event in a family segregating for MTM1 placed the disease gene telomeric to the trinucleotide
polymorphism DXS8377. Together with the recent mapping of two microdeletions associated with MTM1, the recombination refines
the critical region to 280 kb. A second recombination event was observed distal to the tetranucleotide repeat DXS7423. This
recombination has occurred in the offspring of a female with a more than 67% probability of being a carrier and very likely
restricts the MTM1 gene to a 130-kb region. This physical refinement is significant for positional cloning of the disease
gene. The highly polymorphic markers and the precise localization of the MTM1 gene will facilitate genetic diagnosis of the
disorder.
Received: 22 February 1996 / Revised: 18 March 1996 |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|