1.Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population.
Seung Ku LEE ; Hyoun Geun KIM ; Jason J KANG ; Wonil OH ; Bermseok OH ; Kyu Bum KWACK
Genomics & Informatics 2007;5(4):152-160
Most common diseases are caused by multiple genetic and environmental factors. Among the genetic factors, single nucleotide polymorphisms (SNPs) are common DNA sequence variations in individuals and can serve as important genetic markers. Recently, investigations of gene-based and whole genome-based SNPs have been applied to association studies for marker discovery. However, SNPs are so population-specific that the association needs to be verified. Fifty-five genes and 384 SNPs were selected based on association with disease. Genotypes of 337 SNPs in candidate genes were determined using Illumina Sentrix Array Matrix (SAM) chips by an allelespecific extension method in 364 unrelated Korean individuals. Allelic frequencies of SNPs were compared with those of other populations obtained from the International HapMap database. Minor allele frequencies, linkage disequilibrium blocks, tagSNPs, and haplotypes of functional candidate SNPs in 55 genetic disease-associated genes were provided. Our data may provide useful information for the selection of genetic markers for genebased genetic disease-association studies of the Korean population.
Base Sequence
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Gene Frequency
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Genetic Markers
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Genotype
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Haplotypes
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HapMap Project
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Linkage Disequilibrium
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Polymorphism, Single Nucleotide*
2.An Exploration of the Neural Network of Lance-Adams Syndrome: a Case Report
Jimin SONG ; Wonil KANG ; Suk Hoon OHN ; Kwang-Ik JUNG ; Shahid BASHIR ; Woo-Kyoung YOO
Brain & Neurorehabilitation 2021;14(1):e1-
Lance-Adams syndrome (LAS) is a rare neurological disorder that may occur after cardiopulmonary resuscitation. The LAS is usually caused by hypoxic changes.Neuroimaging studies show that the brain pathology of LAS patients is not uniform, and the pathophysiology of the myoclonus can vary from patient to patient. Our case study contributes to this etiological heterogeneity by neuroimaging and transcranial magnetic stimulation (TMS). In patients with rare brain conditions such as LAS, a combination of brain stimulation methods, such as TMS, and diffusion tensor imaging can provide insights into this condition's pathophysiology. These insights can facilitate the development of more effective therapies.