Genotyping of spinal muscular atrophy families with linked DNA probes

M. Gennarelli, S. Melchionda, C. Farrorini, G. Novelli, B. Dallapiccola

Research output: Contribution to journalArticle

Abstract

We report on linkage analysis and haplotype characterization in 40 Italian families with spinal muscular atrophy (SMA). The investigated loci included D5S6, D5S112, D5S39, and D5S76. No evidence of unlinked families was found. Thirty-two (80%) of the examined families were fully informative for prenatal diagnosis and carrier detection. The frequencies of individual alleles did not differ between SMA and normal chromosomes.

Original languageEnglish
Pages (from-to)317-319
Number of pages3
JournalClinical Genetics
Volume42
Issue number6
Publication statusPublished - 1992

Keywords

  • Linkage
  • RFLP
  • Spinal muscle atrophy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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