HERC2 Polymorphism Analysis for Iris Color Prediction
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Solution Overview
Problem
Current genetic studies for predicting human iris color are limited by the need for comparative DNA profiling, which is ineffective when unknown individuals or suspects are involved, as it requires known DNA profiles for comparison, hindering forensic and identification applications.
Innovation Solution
Identification of polymorphisms in the HERC2 gene, specifically markers such as rs916977, rs8028689, and others, to predict iris color from nucleic acid samples, allowing for direct prediction of eye color without comparative DNA profiling.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If comparative DNA profiling is used for human identification, then identification accuracy can be achieved through profile comparison, but the method becomes ineffective when unknown individuals or suspects are involved as it requires known DNA profiles for comparison
Solution Approach 1:
The patent changes the approach from comparative analysis to predictive analysis by using polymorphism markers to directly predict phenotypic traits (iris color) from genetic data. This parameter change allows the method to work with unknown individuals by predicting their characteristics rather than requiring comparison with known profiles
Solution Approach 2:
The patent introduces polymorphism markers as an intermediary between genetic data and phenotypic characteristics. These markers serve as a bridge that enables prediction of iris color and other traits without needing direct comparison with known individual profiles, thus resolving the contradiction between reliability and adaptability
2Reliability
If OCA2 gene SNPs are used for iris color prediction, then some association can be achieved, but the prediction reliability is insufficient compared to HERC2 gene polymorphisms
Solution Approach 1:
The patent extracts the most informative polymorphism markers from the HERC2 gene region, specifically selecting rs916977 and other key markers that show strong association with iris color. This extraction approach improves prediction reliability by focusing on the most relevant genetic variants rather than using all possible markers
Solution Approach 2:
The patent applies local quality by concentrating on specific high-value polymorphism locations within the HERC2 gene region. Rather than uniformly analyzing all genetic material, the method focuses on specific loci (such as rs916977) that have been shown to have the strongest predictive power for iris color, thereby improving accuracy without requiring excessive markers
Data Source
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AI summary
The invention comprises a method to predict iris color of a human from a nucleic acid / protein sample comprising assaying for one or more polymorphisms in the region 5' proximal of the OCA2 gene up to and including the HERC2 gene on chromosome 15 between basepairs 26018062 and 26240890 according to NCBI build 36 or Ensemble Homo sapiens version 46.36h and on basis of the results from the assay predicting the eye color of a human e.g. an unknown person (such as perpetrators and/or victims of crime, missing persons etc.) in forensic and other applications of human identification. Said polymorphisms preferably are selected from the group consisting of rs916977, rs8028689, rs6497287, rs8041209, rs6497292, rs2240202, rs2346050, rsl2592730, rs7183877, rs2240204, rs8039195, rsl6950979, rsl6950987, rsl667394, and rsl635168 or any marker in close physical distance to said markers and consequently in genetic linkage in the region of chromosome 15 between basepairs 26018062 and 26240890 according to NCBI build 36 or Ensemble Homo sapiens version 46.36h. Said polymorphisms are analysed from human material such as human body fluids (e.g. blood, saliva, semen etc.) or other human body parts (e.g. hairs, organs, etc) or from material obtained from whole bodies. The invention further comprises primers and probes, and a kit for the assay. The invention includes application of the genetic eye color prediction using said markers or their combinations (haplotypes) for forensic and other purposes of human identification such as to identify or traee unknown persons e.g. perpetrators and/or victims of crime, missing persons etc..