Familial Hypercholesterolemia in Utah Kindred with Novel 2412-6 Ins G Mutations in Exon 17 of the LDL Receptor Gene.
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概要
- 論文の詳細を見る
Familial hypercholesterolemia (FH) is a monogenic disorder associated with primary hypercholesterolemia. FH is characterized by autosomal co-dominant inheritance with strikingly elevated LDL-cholesterol, the presence of xanthoma and premature atherosclerosis. In the course of investigations of coronary artery disease in Utah, we identified a family whose proband showed elevated plasma levels of LDL cholesterol. To determine the genetic etiology of the lipoprotein abnormalities, we screened DNA samples from the family for mutations in all 18 exons and the exon- intron boundaries of the low-density lipoprotein receptor (LDLR) gene. Novel point mutations were identified in the proband: a one-base insertion of G to a five-G stretch at nucleotides 2412-6 (codons 783-785), causing a frameshift in exon 17 of the LDL receptor gene. The direct sequencing method was used to examine six members of the family recruited for the diagnosis. This method helped to unequivocally diagnose the five individuals as heterozygous for this particular LDL receptor mutation. This method also helped us to diagnose with FH, or to exclude from carrier status, three children between ages 6 and 11.
- International Heart Journal刊行会の論文
著者
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Emi Mitsuru
Department Of Biochemistry Cancer Institute
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Nobe Yukiko
Department Of Molecular Biology Institute Of Gerontology Nippon Medical School
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Hirayama Tsunenori
Department Of Molecular Biology Institute Of Gerontology Nippon Medical School
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Katsumata Harumi
Department Of Bioregulation Institute Of Gerontology Nippon Medical School
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Nakajima Toshiaki
Department Of Cardiology Tokyo University
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N. HOPKINS
Cardiovascular Genetics Research Clinic, University of Utah Medical School, Salt Lake City, UT, USA
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EMI Mitsuru
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan
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R. WILLIAMS
Cardiovascular Genetics Research Clinic, University of Utah Medical School, Salt Lake City, UT, USA
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H. STEPHENSON
Cardiovascular Genetics Research Clinic, University of Utah Medical School, Salt Lake City, UT, USA
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L. WU
Cardiovascular Genetics Research Clinic, University of Utah Medical School, Salt Lake City, UT, USA
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NAKAJIMA Toshiaki
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan
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HIRAYAMA Tsunenori
Department of Molecular Biology, Institute of Gerontology, Nippon Medical School, Kawasaki, Japan
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