• Asian Pacific Journal of Cancer Prevention
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• 제17권7호
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• pp.3065-3069
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• 2016

Single nucleotide polymorphism (SNP) detection has been used extensively for genetic association studies of diseases including cancer. For mass, yet accurate and more economic SNP detection we have optimized tetra primer amplification refractory mutation system polymerase chain reaction (ARMS PCR) to detect three SNPs in the cytochrome P450 2E1 (CYP2E1) gene locus; i.e. rs3813865, rs2070672 and rs3813867. The optimization system strategies used were (1) designing inner and outer primers; (2) determining of their optimum primer concentration ratios; and (3) determining of the optimum PCR annealing temperature. The tetra primer ARMS PCR result could be directly observed using agarose gel electrophoresis. The method succesfully determined three SNPs in CYP2E1 locus, the results being consistent with validation using DNA sequencing and restriction fragment length polymorphisms (RFLP).

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.39-41
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• 2021

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder of hyperphagia leading to severe obesity, intellectual deficits, compulsivity, and other behavioral problems. PWS is caused by the inactivation of contiguous genes on chromosome 15q11-q13, which complicates the development of targeted, effective therapeutics. Various preclinical studies have been conducted by developing mouse models that exhibit phenotypes similar to PWS. Oxytocin deficiency in PWS is associated with hyperphagia with impaired satiety and, food-seeking and behavior disorders. Here, we summarize the oxytocin study of ingestion behavior tested in the PWS mouse model and published data from clinical trials that have evaluated treatment effectiveness on ingestion behavior and social dysfunction in patients with PWS.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.34-38
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• 2021

Prader-Willi syndrome is a complicated genetic disorder caused by a mutation on chromosome 15q11-13. The disease results in morbid obesity due to hyperphagia, growth disturbance, multiple endocrine problems from hypopituitarism, developmental delay, and cognitive or behavioral problems. Recombinant human growth hormone has been used to improve body composition and muscle mass, which plays a main role in treating patients with Prader-Willi syndrome. We describe previous studies showing the efficacy and safety of growth hormone treatment in children with Prader-Willi syndrome and provide treatment guidelines. Growth hormone therapy could be beneficial for children with Prader-Willi syndrome and improve their quality of life.

• Genomics & Informatics
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• 제19권2호
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• pp.13.1-13.8
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• 2021

Ranked in the topmost position among the deadliest diseases in the world, cardiovascular diseases (CVDs) are a global burden with alterations in heart and blood vessels. Early diagnostics and prognostics could be the best possible solution in CVD management. OMICS (genomics, proteomics, transcriptomics, and metabolomics) approaches could be able to tackle the challenges against CVDs. Genome-wide association studies along with next-generation sequencing with various computational biology tools could lead a new sight in early detection and possible therapeutics of CVDs. Human cardiac proteins are also characterized by mass spectrophotometry which could open the scope of proteomics approaches in CVD. Besides this, regulation of gene expression by transcriptomics approaches exhibits a new insight while metabolomics is the endpoint on the downstream of multi-omics approaches to confront CVDs from the early onset. Although a lot of challenges needed to overcome in CVD management, OMICS approaches are certainly a new prospect.

• Asian-Australasian Journal of Animal Sciences
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• 제24권1호
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• pp.9-16
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• 2011

The calpain I (CAPN1) gene is an important marker for meat tenderness and marbling score in the bovine, but there were no studies to determine whether the CAPN1 gene had an association with other meat quality traits. In this study, we examined the relation between genetic polymorphisms of the CAPN1 gene and some meat quality traits in Yanbian Yellow Cattle of China. By PCRSSCP and gene sequencing in 321 unrelated Yanbian yellow cattle, twenty seven single nucleotide polymorphisms (SNPs) were detected in CAPN1, two existed SNPs in exon 8 and exon 17 resulted in the change of AA at F311S and M599V, respectively, and the otherpolymorphisms were at intron 7, 8, 14, 16 and 17. There were different preponderant genotypes at the corresponding gene locus and all genotypes were not associated with tenderness but other meat traits. This is the first study of the relationship between CAPN1 and meat quality besides tenderness in Yanbian yellow cattle of China.

• Genomics & Informatics
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• 제14권4호
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• pp.160-165
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• 2016

Over the past decade, the detection of gene-gene interactions has become more and more popular in the field of genome-wide association studies (GWASs). The goal of the GWAS is to identify genetic susceptibility to complex diseases by assaying and analyzing hundreds of thousands of single-nucleotide polymorphisms. However, such tests are computationally demanding and methodologically challenging. Recently, a simple but powerful method, named "BOolean Operation-based Screening and Testing" (BOOST), was proposed for genome-wide gene-gene interaction analyses. BOOST was designed with a Boolean representation of genotype data and is approximately equivalent to the log-linear model. It is extremely fast, and genome-wide gene-gene interaction analyses can be completed within a few hours. However, BOOST can not adjust for covariate effects, and its type-1 error control is not correct. Thus, we considered two-step approaches for gene-gene interaction analyses. First, we selected gene-gene interactions with BOOST and applied logistic regression with covariate adjustments to select gene-gene interactions. We applied the two-step approach to type 2 diabetes (T2D) in the Korea Association Resource (KARE) cohort and identified some promising pairs of single-nucleotide polymorphisms associated with T2D.

• 생물정신의학
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• 제9권1호
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• pp.8-14
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• 2002

Patients with attention deficit hyperactivity disorder(ADHD) have symptoms of inattention, hyperactivity, impulsivity. Symptoms of ADHD are responsive to medications such as methylphenidate, dextroamphetamine, pemoline, and bupropion. The functional change of the dopamine transporter is related to the therapeutic effect of these drugs. This can be one reason for the dopamine transporter to be emphasized in the research field of ADHD. ADHD has a genetic tendency. Since dopamine transporter gene(DAT1) knock out mice were reported to be several times more active than normal mice in a novel situation, lights has been shed on DAT1 as a candidate gene for ADHD. Though there have been several studies which reported an association between DAT1 and ADHD, the association between DAT1 and ADHD is not conclusive. Since Vandenbergh reported the DAT1 polymorphism with variable number of tandem repeats(VNTR), and the racial differences in allelic frequencies of the DAT1, wide ethnic variation in the distribution of the DAT1 polymorphism had been confirmed. Wide ethnic variation in the distribution of the DAT1 suggested that there might be ethnic difference in the association between DAT1 and ADHD. Before applying previous findings to Koreans, verification might be needed for Korean patients with ADHD.

• 대한의생명과학회지
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• 제20권4호
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• pp.221-226
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• 2014

High-density lipoprotein (HDL) cholesterol levels are associated with decreased risk of coronary artery disease. Several genome-wide association studies (GWAS) for HDL cholesterol levels have implicated Lipoprotein lipase (LPL) as possibly being causal. Herein, the association between single nucleotide polymorphism (SNP) rs10503669 in the LPL gene and HDL cholesterol levels and triglyceride levels was tested in the Korean population. A total of 994 subjects from Seoul City were included in a replication study with LPL SNP rs10503669. SNP rs10503669 in the LPL gene was associated with mean HDL cholesterol levels (effect per allele 3.13 mg/dL, P<0.0001) and triglyceride levels (effect per allele -18.0 mg/dL, P=0.0026). Subjects with the CA/AA genotype had a 0.42-fold (range 0.23~0.77-fold) lower risk of having abnormal HDL cholesterol levels (<40 mg/dL) than subjects with the CC genotype. When analyzed by gender, the association of LPL was stronger in men than in women. This study clearly demonstrates that genetic variants in LPL influence HDL cholesterol levels and triglyceride levels in Korean adults.

• 대한수의학회지
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• 제29권4호
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• pp.457-460
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• 1989

This work was carried out to get some informations about blood types and their researches, involved blood stock and genetic identification. Horses examined were total 55 heads of sire, mare and their progeny in Korean Horse Affairs Association. 1. Albumin phenotypes of 26 mare were examined. The appearance of phenotype AA, BB, AB, was 1, 18, 7 respectively. The gene frequency of albumin A was 0.17 and albumin B was 0.76. 2. The appearance of phenotype AA, BB, AB in 29 progeny was 1, 16, 12 respectively. The gene frequency of albumin A was 0.24 and albumin B was 0.76. The gene frequency of gene A was higher than their parents. 3. Identification of the relationship between parents and their progeny was also examined. 4 of type AB between AA & BB, 4 of type BB between BB & BB, 13 of type AB between BB & AB were borned. In third case, all of progeny was type AB. This results suggest positive relationship between them.

• BMB Reports
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• 제35권3호
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• pp.251-254
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• 2002

The genetic factors that contribute to the development of coronary artery disease (CAD) are poorly understood. It is likely that multiple genes that act independently or synergistically contribute to the development of CAD and the outcome. Recently, an insertion/deletion (I/D) polymorphism of the human angiotensin I-converting enzyme (ACE) gene, a major component of the renin-angiotensin system (RAS), was identified. The association of the ACE gene D allele with essential hypertension and CAD has been reported in the African-American, Chinese, and Japanese populations. However, other studies have failed to detect such an association. It has been suggested that these inconsistencies may be due to the difference in backgrounds of the population characteristics. In the present study, we investigated the I/D polymorphism of the ACE gene in 103 subjects of both sexes, consisting of 59 normal controls and 44 patients with hypertension. The allele and genotype frequency were significantly different between the hypertensive and control groups (p < 0.01). Among the three ACE I/D variants, the DD genotype was associated with the highest value of the mean systolic blood pressure [SBP] and mean diastolic blood pressure [DBP] (p = < 0.05) in men, but not in women. In the overall population, the mean SBP and DBP was highest in DD subjects, intermediate in I/D subjects, and the least in II subjects.