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저베타지단백혈증을 보이는 한국인에서의 Apolipoprotein B 및 Apolipoprotein E 다형성 양상.

Other Titles
 Polymorphism of apolipoprotein B and apolipoprotein E in hybobetalipoproteinemic Korean. 
Authors
 김정호  ;  임환섭  ;  권오헌 
Citation
 KOREAN JOURNAL OF LABORATORY MEDICINE , Vol.22(4) : 388-394, 2002 
Journal Title
KOREAN JOURNAL OF LABORATORY MEDICINE (대한진단검사의학회지)
ISSN
 1598-6535 
Issue Date
2002
Keywords
Hypobetalipoproteinemia ; Apolipoprotein B ; Apolipoprotein E ; Polymorphism ; ApoB8344 ; EcoRI
Abstract
Background : Hypobetalipoproteinemia (HBL) is characterized by plasma concentration of low density lipoprotein cholesterol below the fifth percentile in a healthy population. It has been suggested that HBL may be associated with apolipoprotein E (apoE) and apoB polymorphisms, such as apoB 8344 and apoB EcoRI

Methods : Patients with HBL (n=51) and age-and- sex-matched healthy controls (n=136) were compared for apoE genotyping, apoB 8344 polymorphism and apoB EcoRI polymorphism. ApoE genotyping and apoB EcoRI polymorphism were determined by polymerase chain reaction (PCR)restriction fragment-length polymorphism. ApoB 8344 polymorphism was determined by the FCR amplification refractory mutation system. We also searched truncated apoB with ECL western blotting in 23 HBL subiects.

Results : We could not find any truncated form of apoB. We found significant elevation of the apoEε2 allele frequency of 0.147 in HBL cases compared with 0.063 in healthy controls (p=0.018). The ApoB 8344 polymorphism showed no significant difference between the HBL and the normal control groups. There were no significant apoB EcoRI allele frequency differences between the HBL and the normal groups.

Conclusions : We could not find any relationship between HBL either with apoB 8344 or apoB EcoRI polymorphisms, but apoE ε2 allele seemed to be associated with HBL in Koreans.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Jeong Ho(김정호) ORCID logo https://orcid.org/0000-0003-2479-0548
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/143582
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