Researchers from Technion describe findings in abetalipoproteinemia genetics
2007 MAY 29 -- New research, "Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient," is the subject of a report. "Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol. ABL is caused by mutations of the MTP gene," investigators in Haifa, Israel report. "We investigated the genetic basis for ABL in a cohort of Israeli families. In Ashkenazi Jewish patients we identified a conserved haplotype and a common MTP mutation, p.G865X, with a carrier frequency of 1:131 in this population," wrote L. Benayoun and colleagues, Technion. The researchers concluded: "We also report the first case of ABL and additional abnormalities in a Muslim Arab patient, due to a homozygous contiguous gene deletion of approximately 481 kb, including MTP and eight other genes." Benayoun and colleagues published their study in Molecular Genetics and Metabolism (Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. Molecular Genetics and Metabolism, 2007;90(4):453-7). For additional information, contact L. Benayoun, Faculty of Medicine, Dept. of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Technion-Israel Institute of Technology, Haifa, Israel. The publisher of the journal Molecular Genetics and Metabolism can be contacted at: Academic Press Inc. Elsevier Science, 525 B St., Ste. 1900, San Diego, CA 92101-4495, USA. Keywords: Israel, Haifa, Abetalipoproteinemia Genetics, Abetalipoproteinemia, Genetics, Metabolism. 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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