A Family with Complete Deficiency of Plasma Cholesteryl Ester Transfer Protein Activities.
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- MAKITA Hironi
- The Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance
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- TSUJI Masahiro
- The Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance
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- FURUYA Yukiko
- The Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance
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- TSUCHIHASHI Keiko
- The Department of Chemistry, Sapporo Medical College
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- AKITA Harukuni
- The Department of Laboratory Medicine, Hokkaido University School of Medicine
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- CHIBA Hitoshi
- The Department of Laboratory Medicine, Hokkaido University School of Medicine
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Abstract
A 43-year-old male with a high value of high density lipoprotein cholesterol (151 mg/dl) was found among subjects receiving annual health checks. We investigated the cholesteryl ester transfer protein (CETP) activity and conducted a family study. There was complete deficiency of CETP activities in the proband and his sister, and partial deficiency of CETP activities in his mother and daughter. Genetic analysis revealed a splicing defect (G to A point mutation) in intron 14 of the CETP gene.<br>(Internal Medicine 33: 432-436, 1994)
Journal
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- Internal Medicine
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Internal Medicine 33 (7), 432-436, 1994
The Japanese Society of Internal Medicine