CAJ | 학술논문

目的：探讨肝豆状核变性(HLD)ATP7B基因高频突变位点Arg778Leu、Thr935Met、Pro992Leu点突变与中医证型的关系。方法：选择142例无血缘关系的HLD确诊患者，采用Touchdown PCR(TD-PCR)扩增ATP7B基因的第8、12、13号外显子，并对PCR扩增产物予以限制性内切酶酶切检测第778、935、992密码子的基因突变，对检测的阳性结果进行DNA测序验证。同时对以上142例HLD患者进行中医辨证分型，分析基因突变类型与中医证型的关系。结果：142例HLD患者中48.59%(69/142)的患者在第8外显子检出Arg778Leu突变，5.63%(8/142)的患者在第12外显子检出Thr935Met杂合突变，24.65%(35/142)的患者在第13外显子检出Pro992Leu突变。发生Arg778Leu突变的患者中，肝肾阴虚型32例，气血两虚型13例，湿热内蕴型21例；发生Pro992Leu突变的患者中，肝肾阴虚型12例，气血两虚型9例，湿热内蕴型11例。结论：Arg778Leu突变类型与肝肾阴虚型存在相关性(P=0.03)。 Pro992Leu突变类型与各中医证型无相关性(P＞0.05)。
목적：탐토간두상핵변성(HLD)ATP7B기인고빈돌변위점Arg778Leu、Thr935Met、Pro992Leu점돌변여중의증형적관계。방법：선택142례무혈연관계적HLD학진환자，채용Touchdown PCR(TD-PCR)확증ATP7B기인적제8、12、13호외현자，병대PCR확증산물여이한제성내절매매절검측제778、935、992밀마자적기인돌변，대검측적양성결과진행DNA측서험증。동시대이상142례HLD환자진행중의변증분형，분석기인돌변류형여중의증형적관계。결과：142례HLD환자중48.59%(69/142)적환자재제8외현자검출Arg778Leu돌변，5.63%(8/142)적환자재제12외현자검출Thr935Met잡합돌변，24.65%(35/142)적환자재제13외현자검출Pro992Leu돌변。발생Arg778Leu돌변적환자중，간신음허형32례，기혈량허형13례，습열내온형21례；발생Pro992Leu돌변적환자중，간신음허형12례，기혈량허형9례，습열내온형11례。결론：Arg778Leu돌변류형여간신음허형존재상관성(P=0.03)。 Pro992Leu돌변류형여각중의증형무상관성(P＞0.05)。
Objective: To discuss the relationship between TCM patterns and the mutations of gene locus including Arg 778Leu, Thr935Met and Pro992Leu located at ATP7B gene of Chinese patients suffering from hepatolenticular degeneration(HLD). Method:All 142 patients with HLD were chosen, the exon 8, 12 and 13 located at ATP7B gene was amplified with Touchdown PCR (TD-PCR), gene mutation of the codon 778, 935 and 992 was tested through amplification product of PCR dissected with restriction enzyme, the positive results were tested with DNA sequencing. Above 142 patients were differentiated into patterns, the relationship between gene mutation and TCM patterns was analyzed. Result: Among 142 HLD patients, 48.59%(69/142) of the patients were tested with Arg778Leu mutation in the exon 8, 5.63% (8/142) of the patients were detected with Thr935Met heterozygous mutation in the exon 12;24.65%(35/142) of the patients were tested with Pro992Leu mutation. Among the patients with Arg778Leu mutation, there were 32 cases of liver-kidney Yin deficiency pattern, 13 cases of dual deficiency of Qi-blood and 21 cases of internal accumulation of dampness-heat; among the patients with Pro992Leu mutation, there were 12 cases of liver-kidney Yin deficiency pattern, nine cases of dual deficiency of Qi-blood and 11 cases of internal accumulation of dampness-heat. Conclusion:The types of Arg778Leu mutation are related to liver-kidney Yin deficiency pattern (P=0.03). The types of Pro992Leu mutation show no relativity to different TCM patterns (P>0.05).