Identification of the Human Chromosomal Region Containing the Iridogoniodysgenesis Anomaly Locus by Genomic-Mismatch Scanning
| Autor: | Farideh Mirzayans, Alan J. Mears, Sun-Wei Guo, Pearce Wg, Michael A. Walter |
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| Rok vydání: | 1997 |
| Předmět: |
Male
Genetic Linkage Locus (genetics) Biology Identity by descent Genome 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Gene mapping Genetic linkage Genetics Humans Genetics(clinical) Eye Abnormalities Genetics (clinical) 030304 developmental biology Neurocristopathy 0303 health sciences Genome Human Chromosome Mapping Pedigree chemistry Chromosomal region 030221 ophthalmology & optometry Chromosomes Human Pair 6 Female DNA Research Article |
| Zdroj: | The American Journal of Human Genetics. 61:111-119 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/513894 |
| Popis: | Genome-mismatch scanning (GMS) is a new method of linkage analysis that rapidly isolates regions of identity between two genomes. DNA molecules from regions of identity by descent from two relatives are isolated based on their ability to form extended mismatch-free heteroduplexes. We have applied this rapid technology to identify the chromosomal region shared by two fifth-degree cousins with autosomal dominant iridogoniodysgenesis anomaly (IGDA), a rare ocular neurocristopathy. Markers on the short arm of human chromosome 6p were recovered, consistent with the results of conventional linkage analysis conducted in parallel, indicating linkage of IGDA to 6p25. Control markers tested on a second human chromosome were not recovered. A GMS error rate of approximately 11% was observed, well within an acceptable range for a rapid, first screening approach, especially since GMS results would be confirmed by family analysis with selected markers from the putative region of identity by descent. These results demonstrate not only the value of this technique in the rapid mapping of human genetic traits, but the first application of GMS to a multicellular organism. |
| Databáze: | OpenAIRE |
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