Abstract
Blood samples have traditionally been used as the main source of DNA for genetic analysis. However, this source can be difficult in terms of collection, transportation, and long-term storage. In this study, we investigated whether human nail clippings could be used as a source of DNA for SNP genotyping, null-allele detection, and whole-genome amplification. From extracted nail DNA, we achieved amplicons up to a length of ~400 bp and >96% concordance for SNP genotyping and 100% concordance for null-allele detection compared to DNA derived from matched blood samples. For whole-genome amplification, OmniPlex performed better than Multiple Displacement Amplification with a success rate of 89.3% and 76.8% for SNP genotyping and null-allele detection, respectively. Concordance was ~98% for both methods. When combined with OmniPlex whole-genome amplification, human nail clippings could potentially be used as an alternative to whole blood as a less invasive and more convenient source of DNA for genotyping studies.
Highlights
Researchers have traditionally used blood as the source of DNA to investigate genetic factors in epidemiologicHow to cite this paper: Truong, L., Park, H.L., Chang, S.S., Ziogas, A., Neuhausen, S.L., Wang, S.S., Bernstein, L. and Anton-Culver, H. (2015) Human Nail Clippings as a Source of DNA for Genetic Studies
Buccal swabs and saliva samples were demonstrated to be stable at room temperature for over one and five years, respectively [1] [2], nail DNA was shown to be successful in Single Nucleotide Polymorphism (SNP) detection assays even when clippings were stored at room temperature for over 20 years [3]
One study has shown that nail-extracted DNA quality was reported to be consistent even when nail clippings stored at room temperature for over 20 years, and its quantity was sufficient for a multiplexed SNP detection assay [3]
Summary
Researchers have traditionally used blood as the source of DNA to investigate genetic factors in epidemiologicHow to cite this paper: Truong, L., Park, H.L., Chang, S.S., Ziogas, A., Neuhausen, S.L., Wang, S.S., Bernstein, L. and Anton-Culver, H. (2015) Human Nail Clippings as a Source of DNA for Genetic Studies. Researchers have traditionally used blood as the source of DNA to investigate genetic factors in epidemiologic. (2015) Human Nail Clippings as a Source of DNA for Genetic Studies. Like buccal swabs and saliva, nail collection has many benefits: it is non-invasive, simple, and inexpensive to transport by normal postal mail, as opposed to whole blood and many other DNA sources. Buccal swabs and saliva samples were demonstrated to be stable at room temperature for over one and five years, respectively [1] [2], nail DNA was shown to be successful in SNP detection assays even when clippings were stored at room temperature for over 20 years [3]
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