肝豆状核变性患者ATP7B基因突变类型及中西医结合治疗效果与中医分型的相关性研究

Study on the Correlation Between Gene Mutation Types&Curative Effect of TCM-WM Therapy on Wilson Disease and the TCM Types

目的观察肝豆状核变性(WD)患者基因突变类型及中西医结合治疗效果与中医分型的关系。方法对95例WD患者进行八纲及脏腑辨证分型;提取基因组DNA,PCR扩增其ATP7B基因的第8、12号外显子,对扩增产物直接测序,分析基因突变类型与中医分型的关系;同时对患者采用中西医结合强力排铜治疗1个月,对疗效再次与中医分型作相关性研究。结果95例WD患者8号外显子Arg778Leu点突变35例,其中22例属肝风内动型;而12号外显子测序有13例Thr935Met杂合点突变,6例属痰湿内阻型;经过1个月强力排铜后,发现不同中医类型的治疗疗效之间比较无显著差异,但肝风内动型和痰湿内阻型总有效率优于气血亏虚型。结论Arg778Leu点突变可能与肝风内动相关,Thr935Met点突变与中医证型无相关性;中西医结合治疗效果与中医证型之间无相关性。

Objective： Investigate the correlation between gene mutation types＆curative effect of TCM - WM therapy on Wilson Disease and the TCM types. Methods： 95 WD sufferers, according to the TCM theory of differentiation of syndromes with 8 principles and syndrome differentiation of viscera, classify the symptoms; then extract the genomic DNA, amplify exon 8, 12 of ATP7B gene by polymerase chain reaction（PCR） before sequencing them, study the correlation between gene mutation types and the TCM types; after performing strengthened decopper therapy a month, and analyze the relation between curative effect of TCM - WM therapy and the TCM types. Results： 35 cases have Arg778Leu mutation in exon 8, among which 22 cases were the TCM Syndrome type of endogenous Liver - Wind agitation; in 12 exon, 13 cases were found to have heterozygous Thr935Met, in which 6 cases belong the internal accumulation of phlegmatic hygrosis group; after a month strengthened decopper therapy, no relation was found between different TCM types and curative effect of TCM - WM therapy while refering to the total effective rate, the type of endogenous Liver - Wind agitation and the internal accumulation of phlegmatic hypgrosis group were more effective than asthenia of QI - blood group. Conclusion： Arg778Leu mutation might be related to the TCM Syndrome type of endogenous Liver- Wind agitation, while Thr935Met has no relation with the TCM types; and the curative effect of TCM -WM therapy are not correlated to the TCM types.