An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.

Journal Article

We performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the disease (Types II or III). Markers for six loci encompassing the chromosome 5q11.2-q13.3 region were typed. The best map location for the disease locus was found to be between D5S6 and MAP1B. The corresponding 1 lod unit support intervals is confined to this interval and spans 0.5 cM. The data strongly support the hypothesis of linkage heterogeneity (likelihood ratio, 1.14 x 10(4)), with 5% of the families unlinked. Four families have a probability of less than 50% of segregating the SMA gene linked to the region 5q11.2-q13.3. A likelihood approach to test for linkage disequilibrium revealed no significant departure from Hardy-Weinberg equilibrium with any marker under study.

Full Text

Duke Authors

Cited Authors

  • Mérette, C; Brzustowicz, LM; Daniels, RJ; Davies, KE; Gilliam, TC; Melki, J; Munnich, A; Pericak-Vance, MA; Siddique, T; Voosen, B

Published Date

  • May 1, 1994

Published In

Volume / Issue

  • 21 / 1

Start / End Page

  • 27 - 33

PubMed ID

  • 8088801

Pubmed Central ID

  • 8088801

International Standard Serial Number (ISSN)

  • 0888-7543

Digital Object Identifier (DOI)

  • 10.1006/geno.1994.1220


  • eng

Conference Location

  • United States