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Genotype Analysis Using Human Hair Shaft

The Department of Pathology, The Johns Hopkins University School of Medicine (H-W. C., G. S., I-M. S.), and The Department of Oral and Maxillofacial Surgery, Chi-Mei Medical Center, Tainan, Taiwan (C-Y. Y., S-Y. L.).

Analysis of genotypes for genetic predisposition of diseases has profound and widespread clinical application and has become a fundamental tool in the study of molecular epidemiology. In this study, we report a convenient and completely noninvasive approach to perform genotyping using terminal cephalic hair shaft. The average and median DNA amounts purified from the hair shaft are 112 ± 180 (1 SD) pg/mg and 66 pg/mg of hair shaft, respectively. Using hybridization with molecular beacons that can reliably distinguish single nucleotide polymorphisms at different alleles, we are able to analyze the genotypes of APO-E and G-protein ß3 (GNB3) subunit C825T loci in DNA samples obtained from hair shaft in a high throughput format. The amount of DNA obtained from 20 mg of hair shaft is sufficient for multiple independent genotyping assays. These findings demonstrate that terminal hair shaft provides a convenient and reliable genomic DNA source for an analysis of genotypes.