Linkage Analysis of Spinal Muscular Atrophy
R.J. Daniels, N.H. Thomas, R.N. MacKinnon, T. Lehner,
J. Ott, T.J. Flint, V. Dubowitz, J. Ignatius, M. Donner,
K. Zerres, M. Rietschel, W.O.C. Cookson, L.M. Brzustowicz,
T.C. Gilliam, K.E. Davies
Genomics , 12(2), 335--339 (1992 Feb)
Abstract
Linkage 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.
