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利用 IrisPlex 系统预测哈萨克人群眼睛颜色的遗传变异的准确性。

Predictive accuracy of genetic variants for eye color in a Kazakh population using the IrisPlex system.

机构信息

National Center for Biotechnology, Astana, 010000, Kazakhstan.

Research Centre for Medical Genetics, Moscow, 115522, Russia.

出版信息

BMC Res Notes. 2024 Jul 5;17(1):187. doi: 10.1186/s13104-024-06856-y.

DOI:10.1186/s13104-024-06856-y
PMID:38970104
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11227171/
Abstract

OBJECTIVE

This study assesses the accuracy of the IrisPlex system, a genetic eye color prediction tool for forensic analysis, in the Kazakh population. The study compares previously published genotypes of 515 Kazakh individuals from varied geographical and ethnohistorical contexts with phenotypic data on their eye color, introduced for the first time in this research.

RESULTS

The IrisPlex panel's effectiveness in predicting eye color in the Kazakh population was validated. It exhibited slightly lower accuracy than in Western European populations but was higher than in Siberian populations. The sensitivity was notably high for brown-eyed individuals (0.99), but further research is needed for blue and intermediate eye colors. This study establishes IrisPlex as a useful predictive tool in the Kazakh population and provides a basis for future investigations into the genetic basis of phenotypic variations in this diverse population.

摘要

目的

本研究评估了 IrisPlex 系统在哈萨克人群中的准确性,该系统是一种用于法医分析的遗传眼睛颜色预测工具。本研究比较了之前发表的来自不同地理和民族历史背景的 515 名哈萨克个体的基因型,以及他们眼睛颜色的表型数据,这是本研究首次引入的。

结果

验证了 IrisPlex 面板在哈萨克人群中预测眼睛颜色的有效性。它在哈萨克人群中的准确性略低于西欧人群,但高于西伯利亚人群。棕色眼睛个体的灵敏度显著较高(0.99),但对于蓝色和中间色眼睛还需要进一步研究。本研究确立了 IrisPlex 系统在哈萨克人群中的有用预测工具,并为未来研究该多样化人群中表型变异的遗传基础提供了基础。

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本文引用的文献

1
Genotype data for 60 SNP genetic markers associated with eye, hair, skin color, ABO blood group, sex, core Y-chromosome haplogroups in Kazakh population.与哈萨克人群眼部、头发、肤色、ABO 血型、性别、核心 Y 染色体单倍群相关的 60 个 SNP 遗传标记的基因型数据。
BMC Res Notes. 2024 Feb 18;17(1):51. doi: 10.1186/s13104-024-06712-z.
2
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.法医 DNA 表型预测:用于预测眼睛颜色的基因和遗传变异。
Genes (Basel). 2023 Aug 10;14(8):1604. doi: 10.3390/genes14081604.
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Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan.巴基斯坦马拉坎德地区人群眼睛颜色的表型分类及Irisplex系统的发育验证
Biomedicines. 2023 Apr 20;11(4):1228. doi: 10.3390/biomedicines11041228.
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Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age.法医 DNA 表型分析在相貌、祖源和年龄推断方面的最新进展
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A new approach to broaden the range of eye colour identifiable by IrisPlex in DNA phenotyping.一种新方法拓宽了 IrisPlex 在 DNA 表型分析中可识别的眼睛颜色范围。
Sci Rep. 2022 Jul 27;12(1):12803. doi: 10.1038/s41598-022-17208-w.
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Sci Adv. 2021 Mar 10;7(11). doi: 10.1126/sciadv.abd1239. Print 2021 Mar.
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