Familial Hypercholesterolemia Kindred in Utah with Novel C54S Mutations of the LDL Receptor Gene.
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概要
- 論文の詳細を見る
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 for mutations in all 18 exons and the exon- intron boundaries of the low-density lipoprotein (LDL) receptor gene. Novel point mutations were identified in the proband: a T-to-A transversion at nucleotide position 223, causing substitution of Ser for Cys at codon 54 in exon 3 of the receptor gene. This amino acid replacement would disrupt one of the disulfide bonds necessary for maintenance of the secondary structure of the repeat at the N-terminal of the receptor, prevent correct folding of the receptor, and result in defective intracellular transport of the receptor.
- International Heart Journal刊行会の論文
著者
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HOPKINS Paul
Cardiovascular Genetics Research Clinic, University of Utah Heart Science Center
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Emi Mitsuru
Department Of Biochemistry Cancer Institute
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Wu Lily
Cardiovascular Genetics Research Clinic University Of Utah Heart Science Center
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Yamaki Emi
Department Of Molecular Biology Institute Of Gerontology Nippon Medical School
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WILLIAMS Roger
Cardiovascular Genetics Research Clinic, University of Utah Medical School
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Williams Roger
Cardiovascular Genetics Research Clinic University Of Utah 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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HOPKINS Paul
Cardiovascular Genetics Research Clinic, University of Utah Medical School
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POZHAROV Vitaily
Cardiovascular Genetics Research Clinic, University of Utah Medical School
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WU Lily
Cardiovascular Genetics Research Clinic, University of Utah Medical School
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