Reports from University of Southern California, Institute for Genetic Medicine describe recent advances in genetics & genomics
2007 APR 3 -- Data detailed in "A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3" have been presented. "Amelogenesis imperfecta (AI) is a collective term used to describe phenotypically diverse forms of defective tooth enamel development. AI has been reported to exhibit a variety of inheritance patterns, and several loci have been identified that are associated with AI," scientists in the United States report. "We have performed a genome-wide scan in a large Brazilian family segregating an autosomal dominant form of AI and mapped a novel locus to 8q24.3. A maximum multipoint LOD score of 7.5 was obtained at marker D8S2334 (146,101,309 bp). The disease locus lies in a 1.9 cM (2.1 Mb) region according to the Rutgers Combined Linkage-Physical map, between a VNTR marker (at 143,988,705 bp) and the telomere (146,274,826 bp). Ten candidate genes were identified based on gene ontology and microarray-facilitated gene selection using the expression of murine orthologues in dental tissue, and examined for the presence of a mutation," wrote G. Mendoza and colleagues, University of Southern California, Institute for Genetic Medicine. The researchers concluded: "However, no causative mutation was identified." Mendoza and colleagues published their study in Human Genetics (A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Human Genetics, 2007;120(5):653-62). For more information, contact G. Mendoza, University of Southern California, Institute for Genetic Medicine, 2250 Alcazar Street, CSC-240, Los Angeles, CA 90033 USA. Publisher contact information for the journal Human Genetics is: Springer, 233 Spring Street, New York, NY 10013, USA. Keywords: United States, Los Angeles, Genetics & Genomics, Genetics. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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