41-Plex SNP色素推断复合检测体系在中国人群中的适用性研究

目的 根据已知的HIrisPlex-S色素推断SNP复合检测体系,在中国人群中进行色素表型推断及体系的适用性研究.方法 基于SNaPshot平台,构建包含2个复合扩增检测体系的41重SNP色素特征推断体系41-Plex.使用来自中国7个不同地域人群的200个无关个体DNA样本进行体系的准确性测试.通过人工表型分类读取眼...

Application study of 41-Plex SNPs pigmentation prediction assay in Chinese population

Objective Based on the known HIris Plex-S pigmentation prediction multiplex assays, to evaluate the applicability and accuracy of the 41-plex system in Chinese population. Methods The pigmentation prediction system consists two SNa Pshot-based multiplex assays targeting a total of 41 SNPs. DNA samples of 200 unrelated individuals from seven regions were collected to test prediction accuracy of the system. For all individuals, eye and hair color was manually classified from their portraits, skin color was measured by color detector and classified according to the individual typology angle(ITA). Then the online inference model(https://HIrisPlex.erasmusmc.nl/) was used to predict the pigmentation phenotype category of each individual and calculate the prediction accuracy and the area under the receiver characteristic operating curve(AUC). Based on the visual perception of the actual skin phenotype of participants, the ITA skin classification criteria for arms andcheeks were adjusted differently and, AUC values were calculated respectively. Results The accuracy of brown eye color inference was 97% and the accuracy of black hair inference was 100%. After testing several skin color classification methods, the relatively high AUC values are: 0.831 for pale, 0.661 for intermediate, 0.641 for dark and 0.768 for dark to black skin. Conclusion The 41-Plex system can be preliminarily applied in Chinese difficult cases to assist the investigations in Chinese populations.