Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7
- 1 May 1993
- journal article
- Published by Wiley in Annals of Human Genetics
- Vol. 57 (2), 87-96
- https://doi.org/10.1111/j.1469-1809.1993.tb00890.x
Abstract
Informative polymorphisms have been very difficult to detect in the elastin gene, and this has hampered the analysis of heritable connective tissue disorders, notably the Marfan syndrome. We have recently detected a dinucleotide repeat polymorphism in intron 17 of the human elastin gene consisting of 8 alleles with sizes between 161 and 175 bp. Analysis of 540 chromosomes from unrelated Caucasian individuals revealed a bimodal frequency distribution typical of (dC‐dA)n (dG‐dT)n repeat polymorphisms, with allele frequencies ranging from 0.004 (161 bp) to 0.574 (163 bp). As the elastin gene was originally assigned to chromosome 2q31‐ter and because more recent data have suggested an assignment to 7q11.1–21.1, we have genotyped a sub‐set of the CEPH pedigrees and carried out pairwise linkage analysis with markers on chromosomes 7 and 2. Lod‐scores of between +3.70 and +13.69 were obtained with markers spanning 7p13‐q22.1, whilst negative lod‐scores were observed with the chromosome 2 markers. Analysis of type II human ovarian teratomas placed the elastin gene within 11 cM of the centromere on chromosome 7. Additionally, we detected the dinucleotide repeat in human‐rodent cell hybrids containing chromosome 7, but not those containing chromosome 2. These data confirm the assignment of elastin to chromosome 7 and provide a new, highly informative marker for the analysis of heritable disorders of connective tissue for which elastin is a candidate gene.Keywords
This publication has 14 references indexed in Scilit:
- The CEPH consortium linkage map of human chromosome 2Genomics, 1992
- A Comprehensive Genetic Linkage Map of the Human GenomeScience, 1992
- Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3–31.2Genomics, 1991
- A population genetic study of six VNTR loci in three ethnically defined populationsGenomics, 1991
- Characterization and chromosomal mapping of a genomic clone encoding human alanine:Glyoxylate aminotransferaseGenomics, 1991
- Genetic variation at the plasminogen activator inhibitor-1 locus is associated with altered levels of plasma plasminogen activator inhibitor-1 activity.Arteriosclerosis and Thrombosis: A Journal of Vascular Biology, 1991
- Informativeness of human (dC-dA)n · (dG-dT)n polymorphismsGenomics, 1990
- Cloning of rat aorta lysyl oxidase cDNA: complete codons and predicted amino acid sequenceBiochemistry, 1990
- Abstracts of workshop presentations pp. 1057-1074Cytogenetic and Genome Research, 1989
- SOMATIC CELL HYBRIDS BETWEEN MOUSE PERITONEAL MACROPHAGES AND SV40-TRANSFORMED HUMAN CELLSThe Journal of Experimental Medicine, 1974