• Analytical Science and Technology
• /
• v.37 no.3
• /
• pp.189-199
• /
• 2024

In forensic genetics, when it is not possible to confirm an individual's identity through STR profile analysis, additional information about the individual can be obtained using DNA-based phenotypic traits estimation. Recently, various researches have been conducted on methods to determine externally visible characteristics (EVC) such as eyes, hair, and skin color. However, relying solely on such phenotypic traits information has limitations for application in East Asian regions, including Korea. In this study, in order to utilize EVC related to an individual's appearance as investigative information, SNPs related to eye shape, hair thickness, skin color, as well as baldness, body type, high myopia, facial shape, acne, and behavioral habits were explored. A total of 50 SNPs were selected, and a targeted amplicon NGS panel capable of amplifying them all at once was developed. Experimental results confirmed the allelic types and frequencies of the 50 SNPs in 14 samples. We plan to use this panel to investigate the correlation between genotype and phenotype using various samples, and to develop methods for interpreting the results.

• Journal of Genetic Medicine
• /
• v.8 no.2
• /
• pp.125-129
• /
• 2011

Stickler syndrome is a very rare connective tissue disorder. The authors of the present study describe an 11-month-old girl with high myopia, retinal abnormalities, flat nose, cleft palate, retrognathia, micrognathia, short stature and arthrogryposis. Radiological evaluation also showed irregularity of the epiphysis of the femur and tibia and spondyloepiphyseal dysplasia. Genetic analysis using a peripheral blood sample revealed a novel variant c.787G>A (p.Gly246Asp) mutation of the COL2A1 gene. This is the first Korean case with Stickler syndrome confirmed by genetic testing.

• The Korean Journal of Applied Statistics
• /
• v.33 no.6
• /
• pp.823-832
• /
• 2020

The analgesic effects of music in people with glasses on perceived pain through cold-pressor task (CPT) is assessed based on three-sequence, three-period, crossover trial with three treatment conditions(music-listening, news-listening, and no-sound) to each subject. Fifty subjects are divided into three sequence groups by randomization, and CPTs under the pre-assigned treatment conditions at each period are performed. Pain responses after each CPT, subjects' pain tolerance (PT) in time scale and pain intensity (PI) and pain unpleasantness (PU) in visual analog scale (VAS) are measured. After classifying the group by whether or not to wear glasses, which is the phenotype of the myopia gene, pain responses are compared by F-tests and Tukey's multiple comparisons. CPT pain responses in group with glasses during the music intervention are significantly different from responses during the news intervention and the control conditions, respectively. This study investigates the pain responses of music intervention in the group wearing glasses, which can be seen as a phenotype of the nearsighted gene, and this result would play a role in explaining the biopsychosocial model of the pain mechanism.