• BMB Reports
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• v.32 no.6
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• pp.529-534
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• 1999

Asymmetric PCR and single-strand conformation polymorphism (SSCP) methods were combined to analyze human leukocyte antigen (HLA)-DRB allele polymorphism. Asymmetric PCR amplification was applied to generate single-stranded DNA (ssDNA) using the nonradioactive oligonucleotide primers desinged for the polymorphic exon 2 region. The conformational differences of ssDNAs, depending on the allele type, were analyzed by nondenaturing polyacrylamide gel electrophoresis and visualized by ethidium bromide staining. The ssDNAs were clearly separated from double-stranded DNA without interference and obviously migrated depending on their allele type. This method was applied to the genomic DNA either from homozygous or from heterozygous cell lines containing the DR4 allele as template DNA using DR4-specific primers, and satisfying results were obtained. Compared to the standard PCR-SSCP method, this asymmetric PCR-SSCP method has advantages of increased speed, reproducibility, and convenience. Along with PCR-SSP or sequence-based typing, this method will be useful in routine typing of HLA-DRB allele.

• Genomics & Informatics
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• v.5 no.2
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• pp.61-67
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• 2007

The allele frequencies of markers as well as linkage disequilibrium (LD) can be changed in cases due to the LD between markers and the disease allele, exhibiting spurious associations of markers. To identify the true association, classical statistical tests for dealing with confounders have been applied to draw a conclusion as to whether the association of variants comes from LD with the known disease allele. However, a more direct test considering LD using estimated haplotype frequencies may be more efficient. The null hypothesis is that the different allele frequencies of a variant between cases and controls come solely from the increased disease allele frequency and the LD relationship with the disease allele. The haplotype frequencies of controls are estimated using the expectation maximization (EM) algorithm from the genotype data. The estimated frequencies are applied to calculate the expected haplotype frequencies in cases corresponding to the increase or decrease of the causative or protective alleles. The suggested method was applied to previously published data, and several APOE variants showed association with Alzheimer's disease independent from the APOE ${\varepsilon}4$ variant, rs429358, regardless of LD showing significant simulated p-values. The test results support the possibility that there may be more than one common disease variant in a locus.

• The Korean Journal of Zoology
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• v.25 no.3
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• pp.123-129
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• 1982

In order to establish a biochemical genetic system in Drosophila populations in Korea, the $\\alpha$-glycerophosphate dehydrogenase alleles of eleven natural populations of D. melanogaster in Korea were examined by means of agarose gel electrophoresis. The results obtained are presented below: 1. $\\alpha$-Glycerophosphate dehydrogenase ($\\alpha$-GPDH) allele is scored for eleven natural populations of D. melanogaster in Korea, resulting that $\\alpha$-GPDH is found to be widely polymorphic for two electrophoretic variants. 2. The heterozygosity of $\\alpha$-GPDH is calculated as $40\\sim50%$. 3. The frequency of the FF genotype of $\\alpha$-GPDH is found to be roughly same as the SS genotype, but less than the FS genotype. 4. The F gene of $\\alpha$-GPDH is distributed almost frequently as the S gene.

• Journal of Periodontal and Implant Science
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• v.37 no.3
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• pp.563-573
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• 2007

Genetic polymorphisms associated with aggressive periodontitis have previously been reported. Interleukin-10 is an immunoregulatory cytokine that plays a role in the pathogenesis of periodontitis. Individual capacity for IL-10 production appears to be under genetic influence, The aim of present investigation was to explore possible genetic association of IL-10 gene promoter polymorphisms with generalized aggressive periodontitis. The study population consisted of 37 generalized aggressive periodontitis patients from the Department of Periodontology, Chonnam National University Hospital and 27 control subjects, all the subjects were non-smokers, Genomic DNA was obtained from buccal swab. The IL-10promoter -597, -824, -1082 positions were genotyped by amplifying the polymorphic regions using polymerase chain reaction (PCR) , followed by restriction enzyme digestion and gel electrophoresis. IL-10-597 C (allele 1) to A (allele 2) and IL-10-824 C (allele 1) to T (allele 2) and IL-10-1082 G (allele 1) to A (allele 2) polymorphisms were examined. The results were as follows. 1. In patients, the distribution of genotypes C/C, C/A and NA at Il-10-597 was determined to be 13.5%, 37.8% and 48.7%, respectively and the distribution of genotypes at IL-10-824 was the same as that of IL-10-597. The distribution of genotypes G/G, G/A and NA at IL-10-1082 was found to be 2.7%, 16.2% and 81. 4%, respectively. No statistical difference in genotype distribution was found between the patient and control groups. 2. Allele 2 carriage rate at the three position of the IL-10 promoter region was higher in the control group than the patient group. 3. Allele 2 frequencies at IL-10-597 and -824 positions were higher in female group than male group and its difference was statistically significant(p<0.05). No significant difference in genotype distribution between the control and patient groups. Allele frequency between control and patient groups was not significantly different although allele 2 frequency at the three positions in the IL-10 promoter region appeared to be higher in control group. In conclusion, no clear association between IL-10 gene promoter polymorphisms and generalized aggressive periodontitis in Korean was observed.

• Journal of Nutrition and Health
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• v.41 no.8
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• pp.767-775
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• 2008

Uncoupling protein-1 (UCP-1) plays a major role in thermogenesis at brown adipose tissues and has been implicated in the pathogenesis of obesity and metabolic disorders. The purpose of this study was to estimate the effects of A-3826G polymorphism in 117 Korean prepubertal children aged 8-11 years olds. Anthropometry by bioelectrical impedance analysis method, plasma lipid profiles by auto-biochemical analyzer and UCP-1 genotyping by PCR-RFLP were done. The frequencies of UCP-1 genotypes were AA; 17.7%, AG; 57.8%, GG; 26.6%. The frequencies of each G allele (55.5%) was similar to Japanese's (49%) and higher than Caucacian's (25%). No correlation UCP-1 polymorphism and BMI (kg/$m^2$) or the degree of obesity described by the relative percentiles of the standard weight according to height in prepubertal children. However, plasma total- and LDL-cholesterol were significantly increased in G allele when sex, age and weight were adjusted. Our results suggested that G allele of UCP-1 gene was stronger risk factors in hyperLDLcholesterolemia than A allele. This impact might be progressed as the precaution against the revalence of obesity based-metabolic disease.

• Journal of Animal Science and Technology
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• v.49 no.4
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• pp.429-436
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• 2007

The INRA124 is a bovine Y-chromosomal specific microsatellite locus that has been revealed a polymorphism. This locus has two alleles. The 132 bp allele is specific to cattle (humpless) of taurine origin and the 130 bp allele is specific to cattle (humped) of indicine origin. A total 822 males of 20 breeds or populations; North Eastern Asian breeds (Hanwoo, Korean Black cattle, Chik-so, CBK, Japanese Black cattle, Japanese Brown cattle, Yanbian cattle), Chinese yellow cattle (Luxi cattle, Nanyang cattle), European origin (Angus, Hereford, Charolais, Simmental, Brown swiss, Holstein, Limousin), African origin (Kavirondo zebu, White Fulani, crossbreed of N'Dama and Boran), Indian origin (Sahiwal) were characterized the distribution of alleles using INRA124 locus. Any individuals of European, Japanese origins and Hanwoo were not detected 130 bp allele, Bos indicus specific allele. Bos indicus breeds of Indian and African origins were not detected 132 bp allele, Bos taurus specific allele. CBK population that the crossbreed of Hanwoo, Brahman and Charolais showed the frequency of 0.19 in indicine specific allele. The breeds of Chinese mainland, Luxi and Nanyang cattle were detected 0.46 and 0.29 frequencies in indicine specific allele, respectively. These results suggest that Korean cattle, Hanwoo, had not been originated from a crossbred between Bos primigenius in Europe and Bos indicus in India.

• Korean Journal of Biological Psychiatry
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• v.4 no.1
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• pp.43-47
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• 1997

The author attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and alcoholism in Koreans. The allelic distribution of Taq I polymorphism of the $D_2$ dopamine receptor gene with alcoholism was examined in 67 Korean alcoholics and compared with 100 Korean controls. In alcoholics, the numbers of alcoholics with A1A1, A1A2 and A2A2 were 11(16.4%), 30(44.8%) and 26(38.8%) respectively and in controls with A1A1, A1A2 and A2A2 were 17(17.0%), 42(42.0%) and 41(41.0%), respectively. The prevalence of the A1 allele in alcoholics was 61.2% and 59.0% in controls. And the frequency of the A1 allele in alcoholics and controls were 0.39 and 0.38, respectively. There was not significant difference in the frequency of the A1 allele between alcoholics and controls. This data suggest that the A1 allele is not associated with alcoholism in Koreans. The author conclude that our data do not support an allelic association between the A1 allele at Dopamine $D_2$ receptor and alcoholism. Further systemized studies will be necessary to determine whether the role of allele of Dopamine $D_2$receptor is major effect gene or modifying effect gene in the pathogenesis of alcoholism.

• Korean Journal of Biological Psychiatry
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• v.22 no.4
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• pp.179-186
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• 2015

Objectives Adrenergic alpha 1 and 2 receptors work as pathways to control the serotonergic neuron moderation and mirtazapine acts as antagonist of these receptors. The adrenoreceptor alpha 1a (ADRA1A) gene, which encodes adrenergic alpha 1 receptor, has Arg-347Cys genetic polymorphism and the polymorphism has strong relationship with many neuro-psychiatric diseases. In this study, we explored the relationship between ADRA1A R347C polymorphism and mirtazapine treatment response in Koreans with major depression. Methods 352 patients enrolled in this study, and the symptoms were evaluated by 17-item Hamilton Depression Rating (HAMD-17) scale. After 1, 2, 4, 8, and 12 weeks of mirtazapine treatment, the association between ADRA1A R347C polymorphism and remission/response outcomes was evaluated. Results Treatment response to mirtazapine was significantly better in T allele carriers than C allele homozygotes after 12 weeks of mirtazapine monotherapy. The percentile decline of HAMD-17 score in T allele carriers was larger than that of C allele homozygotes. ADRA1A R347C genotypes were not significantly associated with remission. Conclusions The result showed that treatment response to mirtazapine was significantly associated with ADRA1A R347C genetic polymorphism. T allele carriers showed better treatment response than C allele homozygotes. It can be supposed that T allele carriers have a trend of better treatment response to mirtazapine monotherapy.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.15
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• pp.6199-6203
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• 2014

Background: The expression of MMP genes has been demonstrated to be associated with tumor invasion, metastasis and survival rate for a variety of cancers. The functional promoter polymorphism MMP-2 C-735T is associated with decreased expression of the MMP-2 gene. The aim of present study was to detect any association between MMP-2 C-735T and susceptibility to breast cancer. Materials and Methods: The MMP-2 C-735T polymorphism was studied in 233 women (98 with breast cancer and 135 healthy controls). All studied women were from Kermanshah and Ilam provinces of Western Iran. The MMP-2 C-735T polymorphism was detected using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: The frequencies of MMP-2 CC, CT and TT genotypes in healthy individuals were 59.3, 38.5 and 2.2%, respectively. However, in breast cancer patients, only CC (71.4%) and CT (28.6%) genotypes were observed (p=0.077). In patients the frequency of the MMP-2 C allele was significantly higher (85.7%) compared to that in controls (78.5 %, p=0.048). The presence of C allele of MMP-2 increased the risk of breast cancer by 1.64-fold [OR=1.64 (95%CI 1.01-2.7, p=0.049)]. The frequency of MMP-2 C allele was also higher in patients ${\leq}40$ years (88.9%) than those aged ${\geq}41$ years (67.5%, p=0.07). In addition, the frequency of MMP-2 C allele tended to be higher in patients with a family history of cancer in first-degree relatives (76.6%) compared to that without a family history of cancer (67.3%, p=0.31). Conclusions: Our findings indicate that the C allele of MMP-2 C-735T polymorphism is associated with increased risk of breast cancer. Also, the MMP-2 C allele might increase the risk of young onset breast cancer in our population.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.1049-1052
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• 2013

Background: Studies have shown that alterations of steroid hormone metabolism, particularly involving testosterone, affect the risk of prostate cancer. Therefore, genetic variation in genes of enzymes which are involved could be of importance. The gene most interest is CYP17, whose enzyme product has an essential role in testosterone hormone synthesis. Some studies have indicated that the A2 allele polymorphism of CYP17 associated with increased risk of prostate cancer that could be affected by ethnicity. Therefore, the aim of this study was determination of presence or absence of the A2 allele in patients with prostate cancer. Materials and Methods: We studied the association of A2 allele and prostate cancer among 74 patients with prostate cancer and 128 healthy men which were referred to hospitals of SBMU. Results: This study revealed a significant association between prostate cancer risk and the A2 allele in an Iranian population so that A1A2 and A2A2 genotypes were more common in cases than controls with P-values of 0.029 and 0.010, respectively. Conclusions: Results of our study support a possible role of the A2 allele in sporadic prostate cancer development in Iran, in line with findings elsewhere.