Linkage analysis of spinal muscular atrophy
1992; Elsevier BV; Volume: 12; Issue: 2 Linguagem: Inglês
10.1016/0888-7543(92)90382-3
ISSN1089-8646
AutoresR.J. Daniels, Neil H. Thomas, Ruth N. MacKinnon, Thomas Lehner, Jürg Ott, Tracey Flint, Victor Dubowitz, Jaakko Ignatius, M. Donner, Klaus Zerres, Marcella Rietschel, W. O. C. M. Cookson, Linda M. Brzustowicz, T. Conrad Gilliam, Kay E. Davies,
Tópico(s)RNA Research and Splicing
ResumoLinkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to 5q11.2–q13.3. Localization of D5S6 by in situ hybridization refines the mapping of the defective gene to the region 5q12.2–q13. We also report the use of a highly informative PCR-based polymorphism with five alleles. This RFLP will be particularly useful for prenatal diagnosis where only old tissue samples from affected individuals are available. The high heterozygosity of this locus should also assist in identifying recombinants that will refine the genetic mapping of the mutation.
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