Fine mapping of progressive pseudorheumatoid dysplasia: A tool for heterozygote identification

Asem Alkbateeb, Jamil Al-Alami, Suzanne M. Leal, Hatem El-Shanti

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Abstract

Progressive pseudorheumatoid dysplasia is a skeletal genetic disorder affecting primarily the articular cartilage, causing joint stiffness and leading to a crippling status. More than two-thirds of the reported patients belong to Arab and Mediterranean populations. The disease locus has been mapped to chromosome 6q22 in a region of 12.9 cM using a Jordanian family. We examined two additional families, one Jordanian and one Palestinian, to test for homogeneity of the disorder and the presence of a common haplotype, to fine map the disorder, and to use all the information to derive a tool for heterozygote identification. The two families showed linkage to the same previously reported locus, thus suggesting homogeneity, but they did not share a common haplotype. They also provided information that refined the genetic region for the disease locus to 2.1 cM with three microsatellite markers. The absence of a common haplotype indicates that no common ancestor mutations were inherited by our patients. Genotyping for the three-marker haplotype showed that it can be used as a heterozygote identification tool.

Original languageEnglish
Pages (from-to)329-333
Number of pages5
JournalGenetic Testing
Volume3
Issue number4
Publication statusPublished - 1999
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Alkbateeb, A., Al-Alami, J., Leal, S. M., & El-Shanti, H. (1999). Fine mapping of progressive pseudorheumatoid dysplasia: A tool for heterozygote identification. Genetic Testing, 3(4), 329-333.