• Title/Summary/Keyword: RFLP.

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Association analysis of a polymorphism of the angiotensin I-converting enzyme gene and angiotensin II Type 1 receptor gene in Korean population

  • Yang, Young-Mok;Park, Jong-Hwan;Lee, Hyun-Young;Moon, Eon-Soo
    • Journal of Genetic Medicine
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    • v.2 no.1
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    • pp.27-30
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    • 1998
  • Previously, we made a study report on the genotype distribution and the gene frequency of angiotesin I-converting enzyme (ACE) in Korean population, and on the association between hypertension and genetic variance of ACE. This time, we have investigated a rapid mismatch-PCR/RFLP assays for the variant of the angiotesin II type 1 receptor ($AT_1R$) gene (an $A{\rightarrow}C$ transversion at position 1166 of $AT_1R$ gene), a mutation which may interact with the ACE polymorphism in the determining of risk of myocardial infarction. The genotype distributions of Koreans' angiotensin II type 1 receptor gene were AA (66.3%):AC (28.1%):CC (5.6%), thus the AA genotype was most numerous, and the allele frequency was A:C = 0.803:0.197. Genotype distributions were shown as AA (76.8%):AC (20.9%):CC (2.3%), the allele frequency was A:C = 0.872:0.128 in the male group, and AA (47.4%):AC (41.0%):CC (11.6%), A:C = 0.679:0.321 in the female group. Differences were highly significant between the male and female groups (p<0.0001). Genotype distributions between angiotensin II type 1 receptor gene and angiotensin converting enzyme gene showed that there is no significance between $AT_1R$ genotypes and ACE genotypes in total subjects (p>0.05).

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The $Sst$ I Restriction Fragment Length Polymorphism of the Apolipoprotein C-III Gene in Korean Subjects

  • Youk, Hyei-Soo;Kim, In-Sik;Kang, Sang-Sun;Kang, Hee-Gyoo;Hyun, Sung-Hee
    • Biomedical Science Letters
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    • v.17 no.4
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    • pp.347-353
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    • 2011
  • The definite mechanism in the control of triglyceride metabolism is not well understood. Nowadays, it has been known that the polymorphism of apolipoprotein C-III $Sst$ I was an important candidate for contributing to the control of triglyceride metabolism. In 298 Korean women aged 30 years or more, the genotypes of apolipoprotein C-III $Sst$ I were statistically compared with total blood cholesterol, triglyceride, high density lipoprotein, fasting blood sugar and hemoglobin A1c. Multiple logistic regression analysis was carried out to compare the odd-ratios of hypertriglyceridemia, hypercholesterolemia and diabetes mellitus with them. The differences among the polymorphic types ($S_1S_1$, $S_1S_2$, and $S_2S_2$) were not statistically significant in the distribution of triglyceride, total cholesterol, high density lipoprotein, fasting blood sugar, and hemoglobin A1c. There were not statistically significant in the odds ratios of the hypertriglyceridemia, hypercholesterolemia, and diabetes mellitus, neither. Those were not statistically significant. This study did not show that there was any association between the polymorphism of apolipoprotein C-III $Sst$ I and various laboratory values-total blood cholesterol, triglyceride, high density lipoprotein, fasting blood sugar and hemoglobin A1c.

Association of a Polymorphism in the Promoter Region of Apo-1/Fas Gene with Bipolar Disorder (양극성 장애 환자에서 Apo-1/Fas Promoter 유전자 다형성)

  • Kim, Kyu Hyun;Son, So-Jeong;Lee, Hee Jae;Kim, Jong Woo;Chung, Joo-Ho
    • Korean Journal of Biological Psychiatry
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    • v.10 no.2
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    • pp.121-125
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    • 2003
  • Objective:Recently, many experimental evidences have been reported that psychiatric diseases are closely related with neurodevelopmental abnormalities and this can be properly explained by apoptosis. It is known that Apo-1/Fas is one of the genes in charge of apoptosis related with neurodevelopmental abnormalities. In this study, the association between bipolar disorder and functional polymorphism in Apo-1/Fas promoter gene has been investigated. Method:For 81 bipolar disorder patients and 217 healthy control subjects, MvaI restriction fragment length polymorphism(RFLP) of Apo-1/Fas promoter gene was analyzed after polymerase chain reaction(PCR) amplification. Result:There was a statistical significant difference in genotypic distribution(${\chi}^2$=16.656, df=2, p=0.0002) and allelic frequencies(${\chi}^2$=14.225, df=1, p=0.0002) between bipolar disorder patients and healthy control subjects. Conclusion:Our results suggest an association between functional polymorphism in Apo-1/Fas promoter gene and bipolar disorder and provide the important genetic information related with the pathogenesis of the disease. Further studies employing larger samples are required to clarify the present results.

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Brain-Derived Neurotrophic Factor(BDNF) Genetic Polymorphism and the Long-term Outcome of Antidepressant Treatment in Korean Depressive Patients (한국인 우울 장애 환자에서 Brain-Derived Neurotrophic Factor(BDNF)의 유전자 다형성과 항우울제의 장기 치료 반응)

  • Koo, Jae-Woo;Lee, Hwa-Young;Paik, Jong-Woo;Kang, Rhee-Hun;Lee, Min-Soo
    • Korean Journal of Biological Psychiatry
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    • v.13 no.3
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    • pp.162-169
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    • 2006
  • Objective : Since some studies have shown that the brain-derived neurotrophic factor(BDNF) has an important role in the pathophysiology of depression, this study investigated the relationship between BDNF genetic polymorphism and the long-term outcome of the antidepressant treatment. Method : One hundred and eight patients with major depressive disorder were evaluated for the long-term outcome(up to 3 years) of antidepressant treatment. The severity and improvement of depression were assessed with the Clinical Global Impression(CGI) Scale. The genotypes of BDNF 196A/G polymorphism in the patients were determined using Restriction Fragment Length Polymorphism(RFLP). Result : The genotypes of 128 patients were investigated and 95 patients of those have been evaluated for 3 years. No significant differences were noted comparing three-genotype groups for CGI scales at baseline, 4 weeks, 8 weeks, 1 year, 2 years and 3 years. Conclusion : This result shows that BDNF polymorphism investigated in this study was not associated with the long-term outcome of the antidepressant treatment. However, further studies with another BDNF polymorphism should be needed.

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Characterization and Sequence Analysis of a Lily Isolate of Cucumber mosaic virus from Lithium tsingtauense

  • Ryu, Ki-Hyun;Park, Hye-Won;Park, Jang-Kyung
    • The Plant Pathology Journal
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    • v.18 no.2
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    • pp.85-92
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    • 2002
  • A new isolate of Cucumber mosaic virus (CMV), identified as Li-CMV was isolated from a diseased Korean native lily (Lithium tsingtauense Gilg). Biological and serological properties of Li-CMV were characterized, and reverse transcription-polymerase chain reaction (RT-PCR) analysis, restriction enzyme profiling of RT-PCR products, and nucleotide sequence analysis of RNA3 of the virus were performed in this study. Remarkable differences in symptoms between Li-CMV and ordinary CMV strains were found in tobacco plants and Datura stramonium. Li-CMV-infected tobacco plants (cv. Xanthi-nc and cv. Samsun) induced chlorotic ringspots on uninoculated upper leaves, and the symptom expression was delayed or faint whereas, ordinary CMV strains induced green mosaic symptoms on the plant. Systemic infections were observed on Nicotiana benthamiana with severe mosaic symptom. Restriction mapping analysis of RT-PCR products using MspI showed that Li-CMV belonged to CMV subgroup I. A full-length CDNA copy of RNA3 for the virus was amplified by RT-PCR, cloned, and its complete nucleotide sequence was determined. The RNA3 of Li-CMV was 2, 232 nucleotides long, and consisted of two open reading frames of 843 and 657 bases encoding 3a protein (movement protein) and coat protein, respectively. Results of this study indicate that Li-CMV is a novel strain and belongs to subgroup I of CMV in the genus Cucumovirus.

First Report of Cucumber mosaic virus Isolated from Sambungai (Gynura procumbens) (명월초에서 분리한 오이모자이크바이러스의 감염 첫 보고)

  • Kwon, June;Hong, Jin-Sung
    • Research in Plant Disease
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    • v.23 no.4
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    • pp.379-382
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    • 2017
  • In March 2016, an isolate of Cucumber mosaic virus (named Gyp-CMV) was isolated from the Sambungai (Gynura procumbens) showing the symptoms of mosaic and chlorosis. The isolate Gyp-CMV was characterized by disease reactions in several indicator plants, reverse transcription-polymerase chain reaction (RT-PCR), PCR-restriction fragment length polymorphism, and sequence analysis of movement protein (3a) and coat protein (CP) genes. Tobacco, tomato, pepper, ground cherry, and lambsquarters (Chenopodium quinoa and C. amaranticolor) appeared typical CMV symptoms, but zucchini and cucumber were not infected. Phylogenetic analysis of the 3a and CP gene indicated that Gyp-CMV belongs to the CMV subgroup II. Sequence identities of the Gyp-CMV 3a and CP genes showed 99.3% and 100% to that of Hnt-CMV at amino acid level. To our knowledge, this is the first report of CMV infection in Gynura procumbens.

Practical Algorisms for PCR-RFLP-Based Genotyping of Echinococcus granulosus Sensu Lato

  • Kim, Hye-Jin;Yong, Tae-Soon;Shin, Myeong Heon;Lee, Kyu-Jae;Park, Gab-Man;Suvonkulov, Uktamjon;Kovalenko, Dmitriy;Yu, Hak Sun
    • Parasites, Hosts and Diseases
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    • v.55 no.6
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    • pp.679-684
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    • 2017
  • Echinococcus granulosus sensu lato (s.l.) is a causative agent of cystic echinococcosis or cystic hydatid disease in humans and domestic and wild animals. The disease is a serious health problem in countries associated with poverty and poor hygiene practices, particularly in livestock raising. We introduced a practical algorism for genotyping the parasite, which may be useful to many developing countries. To evaluate the efficiency of the algorism, we genotyped 3 unknown strains isolated from human patients. We found that unknowns 1 and 3 were included in G1, G2, and G3 genotypes group and unknown 2 was included in G4 genotype (Echinococcus equinus) according to the algorisms. We confirmed these results by sequencing the 3 unknown isolates cox1 and nad1 PCR products. In conclusion, these new algorisms are very fast genotype identification tools that are suitable for evaluating E. granulosus s.l. isolated from livestock or livestock holders, particularly in developing countries.

Genotypic Identification of Cystoisospora in Immunocompromised Patients Using Tm-Variation Analysis

  • Basyoni, Maha M.A.;Elghobary, Hany Ahmed Fouad
    • Parasites, Hosts and Diseases
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    • v.55 no.6
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    • pp.601-606
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    • 2017
  • Cystoisospora is responsible for morbidity in immunocompromised patients. PCR is sensitive for diagnosing Cystoisospora; however, it needs reevaluation for differential molecular diagnosis of cystoisosporiasis. We aimed at evaluating melting curve analysis (MCA) after real-time PCR (qPCR) in diagnosis and genotyping of Cystoisospora as an alternative to conventional PCR. We included 293 diarrheic stool samples of patients attending the Department of Clinical Oncology and Nuclear Medicine of Cairo University Hospitals, Egypt. Samples were subjected to microscopy, nested PCR (nPCR), and qPCR targeting the internal transcribed spacer 2 region (ITS2) of the ribosomal RNA (r RNA) gene followed by melting temperatures ($T_ms$) analysis and comparing the results to PCR-RFLP banding patterns. Using microscopy and ITS2-nPCR, 3.1% and 5.8% of cases were Cystoisospora positive, respectively, while 10.9% were positive using qPCR. Genotyping of Cystoisospora by qPCR-MCA revealed 2 genotypes. These genotypes matched with 2 distinct melting peaks with specified $T_ms$ at $85.8^{\circ}C$ and $88.6^{\circ}C$, which indicated genetic variation among Cystoisospora isolates in Egypt. Genotype II proved to be more prevalent (65.6%). HIV-related Kaposi sarcoma and leukemic patients harbored both genotypes with a tendency to genotype II. Genotype I was more prevalent in lymphomas and mammary gland tumors while colorectal and hepatocellular tumors harbored genotype II suggesting that this genotype might be responsible for the development of cystoisosporiasis in immunocompromised patients. Direct reliable identification and differentiation of Cystoisospora species could be established using $qPCR-T_ms$ analysis which is useful for rapid detection and screening of Cystoisospora genotypes principally in high risk groups.

FABP3 and FABP4 Genes Are the Potential Candidates for Body Weights in Korean Native Chicken

  • Cahyadi, Muhammad;Seo, Dongwon;Choi, Nuri;Jin, Shil;Maharani, Dyah;Heo, Kang Nyeong;Kang, Bo Seok;Jo, Cheorun;Lee, Jun Heon
    • Korean Journal of Poultry Science
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    • v.40 no.2
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    • pp.91-96
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    • 2013
  • FABPs, 15 kDa organic substances, are small intracellular proteins which have a primary role to regulate fatty acid uptake and intracellular transport. This study was conducted to identify SNPs in the two FABP family genes and their associations with the body weight traits in Korean native chicken (KNC). Two SNPs, namely g.508C>T of FABP3 gene and g.285C>T of FABP4 gene, have been genotyped by using PCR-RFLP method. The results showed that FABP3 was significantly associated with body weight at birth, body weights at 12 to 20 weeks, and also slaughter weight. Moreover, the g.285C>T SNP of FABP4 gene was not associated with any body weight traits. These results suggested that the g.508C>T SNP of FABP3 genes can be used as molecular markers to select KNC having desirable body weights.

Restriction Fragment Length Polymorphism of Interleukin-10 Gene in Major Depression (주요 우울증에서 Interleukin-10 유전자의 제한효소 절편길이 다형성)

  • Jun, Taeyoun;Pae, Chi-Un;Lee, Chung Tai;Bahk, Won-Myong;Kim, Kwang-Soo
    • Korean Journal of Biological Psychiatry
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    • v.7 no.2
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    • pp.147-151
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    • 2000
  • Objective : Major depression is known to have immunologic dysfunctions, the recent studies revealed that cytokines including IL-6 and IL-$1{\beta}$ were increased in patients with major depression. Since molecular genetic methods have been progressed, this study was to investigate the relationship between major depression and immunologic aspects by analyzing polymorphism of IL-10 gene. Method : 92 patients with major depression were included and data of 146 normal controls obtained from the Catholic Hemopoietic Stem Cell Information Bank of Korea were used in this study. DNA was extracted from whole blood, thereafter amplified by polymerase chain reaction, and digested by Mae III After that procedure, we obtained and assessed RFLP of two alleles, IL-10T and IL-10C. All data were analyzed by ${\chi}^2$ test. Results : 1) There were no significant difference in genotype frequencies of $IL-10^*T/T$, $IL-10^*T/C$, and $IL-10^*C/C$ between major depression patients group and control group. 2) There were no significant difference in allelic frequencies of $IL-10^*T$ and $IL-10^*C$ between major depression patients group and control group. Conclusion : We did not verified the differences in frequencies of $IL-10^*T/^*IL-10^*C$ gene between the major depression patients group and control group, respectively. But the results of this study do not declare that the IL-10 gene has no association with major depression. We do suggest that further systematic studies including various clinical variables should be conducted.

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