Genotyping of 38 insertion/deletion polymorphisms for human identification using universal fluorescent PCR

Area of Science:

• Forensic Science
• Genetics
• Molecular Biology

Background:

• Short insertion/deletion (Indel) polymorphisms are valuable biallelic markers for forensic analysis.
• Indel genotyping can enhance human identification accuracy when used alongside other methods.

Purpose of the Study:

• To examine the allele frequencies of 37 autosomal Indels in the Japanese population.
• To develop a novel dual-color genotyping method for human identification using universal fluorescent PCR.

Main Methods:

• Analyzed 37 autosomal Indels in 100 Japanese individuals.
• Developed a novel universal primer for dual-color genotyping with high amplification efficiency and specificity.
• Utilized FAM-labeled and HEX-labeled primers in multiplex PCR for clear signal distinction.

Main Results:

• Determined average minor allele frequency of 0.39 and accumulated matching probability of 2.12 × 10(-15).
• Achieved complete DNA profiles with as little as 0.25 ng of DNA.
• Demonstrated robust, sensitive, and cost-effective genotyping for human identification.

Conclusions:

• The novel dual-color Indel genotyping method significantly improves human identification accuracy.
• This method is a sensitive, robust, and cost-effective tool for forensic applications.
• The technique is effective even with minimal DNA samples, enhancing its practical utility.