安徽脊髓小脑性共济失调患者基因型与中医证型相关性

Relationship between Genotypes and Traditional Chinese Medicine Syndromes in Spinocerebellar Ataxia Patients from Anhui Province

目的通过探讨脊髓小脑性共济失调(spinocerebellar ataxia,SCA)患者基因型与中医证型的关系,为SCA的辨证客观化提供依据。方法检测59例来自安徽地区的家族性或散发性SCA患者的基因型,以30例无血缘关系的健康人为对照。对这些SCA患者进行辨证分型,分析其基因型与中医证型的相关性。结果本组59例SCA患者有17例检出SCA3基因亚型,有7例检出SCA1基因亚型。上述患者中医证型表现为肾精亏虚型、脾肾两虚型、肝肾阴虚型、肾虚血瘀型4种,且以肾精亏虚型和脾肾两虚型为主。其中SCA3基因亚型患者与脾肾两虚型相关,而SCA1基因亚型患者与上述证型均无相关性。结论研究初步证实,不同基因亚型的SCA患者与中医证型可能存在相关性,SCA患者不同的中医证型应有其相应的分子基础。

Objective To provide a basis for the objectification of syndrome-differentiation in spinocerebellar ataxia（SCA） patients,via studying the relationship between genotypes of SCA and traditional Chinese medicine（TCM） syndromes.Methods A total of 59 familial or sporadic SCA patients from Anhui province were collected according to inclusion criteria,and their SCA genotypes were detected,and other 30 unrelated healthy people served as controls.Their TCM syndrome types were differentiated,and the relationship between SCA genotypes and TCM syndrome types were analyzed.Results Of 59 SCA patients,17 were diagnosed as SCA3 genotype,and 7 as SCA1 genotype.Four TCM syndrome types were found among these patients,including kidney essence deficiency,asthenia of both spleen and kidney,asthenia of both kidney-yin and liver-yin,and kidney deficiency complicated with blood stasis,with kidney essence deficiency and asthenia of both spleen and kidney being the most common types.The SCA3 genotype was significantly related to asthenia of both spleen and kidney,while SCA1 genotype did not correlate with any of the four TCM syndrome types.Conclusion It is suggested that SCA genotypes correlate with TCM syndrome types,and TCM syndrome types have their corresponding molecular basis in SCA patients.