HIrisPlex眼睛及头发颜色推断体系在中国亚欧混合人群中的应用  

Validation of the HIrisPlex system for eye and hair color prediction in Eurasian population

作　　者：张微 马咪 许磊[2] 晏于文 胡胜[2] 曾发明[1,3] 赵雯婷[2] Zhang Wei;Ma Mi;Xu Lei;Yan Yuwen;Hu Sheng;Zeng Faming;Zhao Wenting(School of Forensic Medicine,Kuming Medical University,Kunming 650500,China;National Engineering Laboratory for Forensic Science,Key Laboratory of Forensic Genetics of Ministry of Public Security,Institute of Forensic Sciences,Beijing 100038,China;Criminal Investigation Police Corps,Yunnan Provincial Public Security Department,Kunming Yunnan 65002,China;Production and Construction Corps of Seventh Division Public Security Bureau,Kuitun 833200,China)

机构地区：[1]昆明医科大学,云南昆明650500 [2]公安部物证鉴定中心,现场物证溯源技术国家工程实验室,北京市现场物证检验工程技术研究中心,北京100038 [3]云南省公安厅刑事侦查总队,云南昆明650021 [4]新疆生产建设兵团第七师公安局,新疆奎屯833200

出　　处：《中国法医学杂志》2020年第3期278-285,289,共9页Chinese Journal of Forensic Medicine

基　　金：国家重点研发计划(2017YFC080351);中央级公益性科研院所基本科研业务费专项资金项目(2018JB046,2017JB025)。

摘　　要：目的验证HIrisPlex眼睛及头发颜色推断系统在中国亚欧混合人群中的准确性及适用性。方法本研究采用人工读取照片的方式,对新疆兵团公安局提供的200例亚欧混合个体样本的眼睛及头发颜色进行表型分类;对上述样本的血卡应用实验室构建的包含24个眼睛及头发颜色相关位点的HIrisPlex复合扩增体系进行基因型检验。将分型数据上传至在线推断模型(https://HIrisPlex.erasmusmc.nl/)来推断样本的眼睛及头发颜色,并通过受试者工作特征曲线下面积(Area under the receiver characteristic operating curve,AUC)来计算模型对样本表型的推断准确性。结果人工读取后,样本被分类为2种眼睛颜色和2种头发颜色。在线模型对样本蓝色和棕色眼睛进行推断得到的AUC值分别为0.876和0.874,对棕色、黑色头发进行推断的AUC值分别为0.575和0.635。结论HIrisPlex系统对亚欧混合人群眼睛颜色推断具有较高的准确性,对头发颜色的推断具有一定的参考价值,可以尝试应用于相关案件并为之提供外貌特征线索。Objective To verify the prediction accuracy and applicability of the HIrisPlex eye and hair color inference.system in Eurasian population.Methods This study included a total of 200 blood-card samples of European-Asian admixed ancestry,which were provided by Xinjiang public security bureau.Eye and hair color category was determined by reading and classifying the facial digital images manually.HIrisPlex system,consists of a single multiplex assay targeting 24 eye and hair color predictive variations,was constructed in the laboratory and all the DNA extracted from blood cards was genotyped.The online models(https://HIrisPlex.erasmusmc.nl/)for DNA-based eye and hair color prediction were used with input from SNP genotyping.We then analyzed the overall prediction accuracy by the area under the receiver characteristic operating curve(AUC).Results The samples were classified into 2 eye color and 2 hair color categorical phenotypes.Analysis showed the AUC values for the blue and brown eyes of the sample were 0.876 and 0.874,while hair color was predicted with AUC=0.575 for brown and AUC=0.635 for black.Conclusion HIrisPlex system has relatively high accuracy of eye color prediction and can provide clues to hair color in Eurasian,which could be used to provide appearance feature clues for the investigations of some difficult cases.

关 键 词：HIrisPlex SNP 眼睛和头发颜色 中国亚欧混合人群 

分 类 号：DF795.2[医药卫生—法医学]