Journal article
Fine Mapping of Progressive Pseudorheumatoid Dysplasia: A Tool for Heterozygote Identification
Genetic testing, Vol.3(4), pp.329-333
1999
DOI: 10.1089/gte.1999.3.329
PMCID: PMC6141022
PMID: 10627939
Abstract
Progressive pseudorheumatoid dysplasia is a skeletal genetic disorder affecting primarily the articular carti lage, 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 hétérozygote 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.
Details
- Title: Subtitle
- Fine Mapping of Progressive Pseudorheumatoid Dysplasia: A Tool for Heterozygote Identification
- Creators
- ASEM ALKBATEEB - Department of Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, JordanJAMIL AL-ALAMI - Departments of Biochemistry and Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, JordanSUZANNE M LEAL - Laboratory of Statistical Genetics, The Rockefeller University, New York, NY 10021-6399HATEM EL-SHANTI - Departments of Pediatrics and Medical Laboratory Sciences, Jordan University of Science and Technology, Irbid, Jordan
- Resource Type
- Journal article
- Publication Details
- Genetic testing, Vol.3(4), pp.329-333
- DOI
- 10.1089/gte.1999.3.329
- PMID
- 10627939
- PMCID
- PMC6141022
- NLM abbreviation
- Genet Test
- ISSN
- 1090-6576
- eISSN
- 1557-7473
- Language
- English
- Date published
- 1999
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093227502771
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