MISC

1999年2月

Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey

HUMAN MOLECULAR GENETICS
  • K Yamakawa-Kobayashi
  • ,
  • H Yanagi
  • ,
  • H Fukayama
  • ,
  • C Hirano
  • ,
  • Y Shimakura
  • ,
  • N Yamamoto
  • ,
  • T Arinami
  • ,
  • S Tsuchiya
  • ,
  • H Hamaguchi

8
2
開始ページ
331
終了ページ
336
記述言語
英語
掲載種別
DOI
10.1093/hmg/8.2.331
出版者・発行元
OXFORD UNIV PRESS

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 (less than or equal to 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.

Web of Science ® 被引用回数 : 32

リンク情報
DOI
https://doi.org/10.1093/hmg/8.2.331
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000078557100020&DestApp=WOS_CPL

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