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

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)335-339
Number of pages5
Issue number2
StatePublished - Feb 1992
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics


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