Genetic homogeneity in Sjogren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins

G. R. Rogers, W. B. Rizzo, A. Zlotogorski, N. Hashem, M. Lee, J. G. Compton, S. J. Bale

Research output: Contribution to journalArticle

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Abstract

Sjogren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Three United States families, three Egyptian families, and one Israeli Arab family were investigated for linkage of the SLS gene to a region of chromosome 17. Pairwise and multipoint linkage analysis with nine markers mapped the SLS gene to the same region of the genome as that reported in Swedish SLS pedigrees. Examination of recombinants by haplotype analysis showed that the gene lies in the region containing the markers D17S953, D17S805, D17S689, and D17S842. D17S805 is pericentromeric on 17p. Patients in two consanguineous Egyptian families were homozygous at the nine marker loci tested, and another patient from a third family was homozygous for eight of the nine, suggesting that within each of these families the region of chromosome 17 carrying the SLS gene is identical by descent. Linkage of the SLS gene to chromosome 17p in families of Arabic, mixed European, Native American, and Swedish descent provides evidence for a single SLS locus and should prove useful for diagnosis and carrier detection in worldwide cases.

Original languageEnglish (US)
Pages (from-to)1123-1129
Number of pages7
JournalAmerican Journal of Human Genetics
Volume57
Issue number5
StatePublished - Jan 1 1995

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Sjogren-Larsson Syndrome
Chromosomes
Chromosomes, Human, Pair 17
Genes
Ichthyosis
Quadriplegia
North American Indians
Cerebral Palsy
Pedigree
Intellectual Disability
Haplotypes
Genome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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Genetic homogeneity in Sjogren-Larsson syndrome : Linkage to chromosome 17p in families of different non-Swedish ethnic origins. / Rogers, G. R.; Rizzo, W. B.; Zlotogorski, A.; Hashem, N.; Lee, M.; Compton, J. G.; Bale, S. J.

In: American Journal of Human Genetics, Vol. 57, No. 5, 01.01.1995, p. 1123-1129.

Research output: Contribution to journalArticle

Rogers, G. R. ; Rizzo, W. B. ; Zlotogorski, A. ; Hashem, N. ; Lee, M. ; Compton, J. G. ; Bale, S. J. / Genetic homogeneity in Sjogren-Larsson syndrome : Linkage to chromosome 17p in families of different non-Swedish ethnic origins. In: American Journal of Human Genetics. 1995 ; Vol. 57, No. 5. pp. 1123-1129.
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