Human Molecular Genetics, Vol 8, 331-336, Copyright © 1999 by Oxford University Press
K Yamakawa-Kobayashi, H Yanagi, H Fukayama, C Hirano, Y Shimakura, N Yamamoto, T Arinami, S Tsuchiya and H Hamaguchi
To determine the frequency of familial hypoalphalipoproteinemia in the
general population due to mutation of the apolipoprotein A-I (apo A-I)
gene, we analyzed sequence variations in the apo A-I gene. The subjects
were 67 children with a low high-density lipoprotein (HDL) cholesterol
level (</=38 mg/dl, below the fifth percentile in the population of this
study) who were screened from 1254 schoolchildren through a school survey.
Four different mutations with deleterious potential, three frameshifts and
one splice site mutation, were identified in four of the subjects. The
plasma apo A-I levels of the four children with apo A- I gene mutations
were reduced to approximately half of the normal levels and were below the
first percentile of the general population distribution (80 mg/dl). Thus,
the frequency of hypoalphalipoproteinemia due to a mutant apolipoprotein
A-I gene was estimated at 6% (95% CI: 2.4-14. 4%) in the subjects with low
HDL cholesterol levels and 0.3% (95% CI: 0.1-0.8%) in the Japanese
population. This suggests that familial hypoalphalipoproteinemia due to apo
A-I gene mutations is relatively common.
ARTICLES
Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey
Department of Medical Genetics, Institute of Basic Medical Sciences, Institute of Community Medicine and Institute of Clinical Medicine, University of Tsukuba, Tsukuba, Ibaraki 305-8575, Japan. kkimiko@md.tsukuba.ac.jp
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