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한국인 집단에서 알츠하이머 치매의 임상적 진단을 위한 ApoE 유전자와 BchE-k 변이형과의 상승관계에 관한 연구
신은심 ( Eun Sim Shin ),정호진 ( Ho Jin Choung ),장미선 ( Mi Sun Chang ),윤송로 ( Song Ro Yoon ),임용빈 ( Yong Bin Eym ),이기철 ( Gi Chul Lee ),이강희 ( Kang Hee Lee ),김재종 ( Jae Jong Kim ),최수경 ( Soo Kyung Choi ) 대한임상검사과학회 1999 대한임상검사과학회지(KJCLS) Vol.31 No.2
The Apolipoprotein E type 4 allele (ApoE e4) is genetically associated with the common late onset familial and sporadic forms of Alzheimer``s disease. ApoE gene is located on chromosome 19, and the three common alleles are designated e 2, e 3, and e 4. The e 4 gene is a major risk factor for late onset Alzheimer``s disease(LOAD). It has been reported that the polymorphic k variant of butyrylcholinesterase (BchE-k) has an elevated frequency in AD patients carrying the e 4 allele of ApoE when compared with a nonnal hea1thy group. BchE activiη in the brain increases around age 60 and is elevated in AD. The BchE-k variant, which is the common variant of the BchE gene, has been reported to show allelic association with AD in subjects who are also carriers of the e 4 allele of ApoE, especilly in subjects over the age of 75. This study was performed to evaluate the distribution of ApoE and BchE genotype in healthy and AD group and to evaluate the synergy between BchE-k variant and ApoE з 4 in AD. ApoE and BchE genotype were determined in DNA samples from 610 healthy group and 60 LOAD patients by using ARMS a11ele specific oligonucleotides (ASOs) amplification by standard agarose gel electrophoresis. πle efIect of ApoE E з4 was significant1y associated with AD(p<0.05). A comparison between AD patients and the hea1thy individua1s, both with the E 4 a11ele, indicated an interaction between BchE-k and ApoE E з4(p<0.05). The association of BchE-k with AD was limited to carriers of ApoE E 4 a11ele, among whom the presence of BchE-k gave an odds ratio of AD of 3.48 (95% C.I. 1.3-9.2). Together these resu1ts suggested that further evidence of an association between ApoE E 4 and LOAD, and BchE-k acts in synergy with ApoE E з4 as a susceptibility gene for AD.