Linkage disequilibrium and haplotype analysis among Polish families with Spinal Muscular Atrophy

L. M. Brzustowicz, C. H. Wang, D. Matseoane, P. W. Kleyn, E. Vitale, K. Das, G. K. Penchaszadeh, T. L. Munsat, I. Hausmanowa-Petrusewicz, T. C. Gilliam

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13 Scopus citations


Spinal Muscular Atrophy (SMA) is an inherited degenerative disorder of anterior horn cells that results in progressive muscle weakness and atrophy. The autosomal recessive forms of childhood-onset SMA have been mapped to chromosome 5q11.2-13.3, in a number of studies examining different populations. A total of 9 simple sequence repeat markers were genotyped against 32 Polish families with SMA. The markers span an ~0.7 cM region defined by the SMA flanking markers D5S435 and MAP1B. Significant linkage disequilibrium (corrected P < .05) was detected at four of these markers, with D/D(max) values of ≤.89. Extended haplotype analysis revealed a predominant haplotype associated with SMA. The apparently high mutation rate of some of the markers has resulted in a number of haplotypes that vary slightly from this predominant haplotype. The predominant haplotype and these closely related patterns represent 25% of the disease chromosomes and none of the nontransmitted parental chromosomes. This predominant haplotype is present both in patients with acute (type I) and in chronic (types II and III) forms of SMA and occurs twice in a homozygous state, both times in children with chronic SMA.

Original languageAmerican English
Pages (from-to)210-215
Number of pages6
JournalAmerican Journal of Human Genetics
Issue number1
StatePublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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