• Title/Summary/Keyword: Molecular genetics

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Analysis of Genetic Polymorphisms and Similarity Using Random Amplified Polymorphic DNAs in Cattle (RAPD기법을 이용한 축우의 유전적 다형성과 유사도 분석)

  • Lee, S.H.;Seo, K.W.;Kwon, I.;Sung, C.K.;Kim, S.K.;Sang, B.C.
    • Korean Journal of Agricultural Science
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    • v.26 no.2
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    • pp.39-48
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    • 1999
  • This study was carried out to investigate the difference and genetic similarity at the level of molecular genetics. Genomic DNA was extracted from blood of Holstein, Korean cattle, Charolais, and hybrid between Korean cattle and charolais and RAPD(random amplified polymorphic DNAs) was analyzed by PCR(polymerase chain reaction). After genetic similarity value from different breeds are analyzed, genetic similarity was estimated by UPGMA(unweighted pair-group method using average). The results obtained from this study can be summarized as follows: 1. When genomic DNA which was extracted from different breeds was subjected to electrophoresis on 1.5% agarose gel, bigger than 12.2kb was appeared. Ratio by absorbance of $A_{260}/A_{280}$ was 1.75~2.10, indicating that genomic DNA was quite pure for RAPD analysis. 2. Different band patterns by RAPD were appeared according to the breeds in cattle. The best primer used to distinguish Holstein from other breeds was 5'-GAC CGC TTG T-3'. 3. A 340bp fragment was amplified in $33.0^{\circ}C$ of annealing temperature for the Holstein and Charolais breeds, but any amplification was not occurred in this annealing temperature for Korean cattle and hybrid. In addition, a 340bp fragment was amplified in $37.5^{\circ}C$ of annealing temperature for the Holstein and Korean cattle, but any amplification was not occurred in this annealing temperature for Charolais and hybrid. For the reaction of PCR. $37.5^{\circ}C$ and $33.0^{\circ}C$ of annealing temperature was shown to be best for genetic marker identification from Holstein, Charolais, and hybrid between Korean cattle and Charolais. 4. When genetic similarity from different breeds are analyzed at the both temperature of $33.0^{\circ}C$ and $37.5^{\circ}C$, the genetic similarity value of Holstein and Korean cattle, Holstein and Charolais, Korean cattle and Charolais, and Korean cattle and hybrid were 0.666~0.777, 0.615~0.666, 0.400~0.461 and 0.857~0.888, respectively. 5. It could be concluded that different breeds are capable of distinguishing by RAPD used random primer 5'-GAC CGC TTG T-3', genetic similarity from different breeds was appeared the higher genetic similarity value of Korean cattle and Charolais than that of Holstein between Korean cattle and Charolais by UPGMA.

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Mutations of p53 Tumor Suppressor Gene in Human Lung Cancer Cell Lines (사람 폐암세포주에서 p53 종양억제유전자의 변이)

  • Hong, Weon-Seon;Hong, Seok-Il;Lee, Dong-Soon;Son, Young-Sook;Lee, Choon-Taek
    • Tuberculosis and Respiratory Diseases
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    • v.40 no.6
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    • pp.653-658
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    • 1993
  • Background: Recent advancement of molecular genetics has revealed that malignant transformation of a cell may be a complex multistep process and this process is grouped, in general, into two distinct categories, activation of protooncogenes and inactivation of tumor suppressor genes. This study was focused on the mutation of p53 tumor suppressor gene, because p53 gene mutation is now generally accepted to be one of the most frequent genetic changes in a variety of human cancers. Although lung cancer is one of the common cancers in Korea, the genetic change in the carcinogenesis process is not yet known clearly. To investigate the role of p53 gene mutation in lung cancer, we examined the mutations of exon 4-8 of the p53 gene in humna lung cancer cell lines, because most of the mutations of p53 gene have been reported to develop in exon 4-8. Method: Genomic DNA was obtained by the digestion of proteinase K and the extraction by phenol-chloroform-ethanol method from two human pulmonary adenocarcinoma cell lines, PC-9 and PC-14, and one human small cell lung cancer cell line, H69. To detect the mutations of exon 4-8 of the p53 gene, polymerase chain reaction single-strand conformation polymorphism(PCR-SSCP) analysis was performed with the DNA extracted from the cells. Results: The mutation of p53 gene was present in all three cell lines tested. In PC-9, PC-14 and H69, the altered mobility was detected in exon 7, 7 and 5, respectively. Conclusion: These results suggest that p53 gene mutation plays an important role in certain steps of the carcinogenesis of human non-small cell and small cell lung cancer.

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A Case Report of Novel Mutation in GNPTAB in Two Siblings with Mucolipidosis Type III Alpha/beta (GNPTAB 유전자에서 새로운 돌연변이가 확인된 뮤코지방증 III형 남매)

  • Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.99-106
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    • 2018
  • Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

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Studies on the Characteristics of Volatile Fatty Acid Evolution from Fresh Animal Feces (축분의 휘발성 지방산 발현 양상 연구)

  • ;;;Hudson, Neale
    • Journal of Animal Environmental Science
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    • v.10 no.1
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    • pp.11-22
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    • 2004
  • This work was carried out to measure volatile fatty acids emissions from different manure (poultry, swine, cattle) incubated at $10^{\circ}C$, $25^{\circ}C$, and $37^{\circ}C$ for 6 days under anaerobic condition. Following are summary of these tests results. 1. Amounts of Acetic acid generated were 1,128.05mg/kg, 628.21mg/kg and 592.50mg/kg for swine, poultry, and cattle manure, respectively, during the period of incubation. In the case of swine and cattle manure, 83.87%(946.10mg/kg) and 57.49%(340.63mg/kg) from all the temperature treatments were produced in the $25^{\circ}C$, respectively. 83.57% in swine and 78.79% in cattle manure were intensively emerged from 3 day, 4 day and 5 day of the $25^{\circ}C$ treatment. In the case of poultry manure, 45.36%(284.93mg/kg) and 45.36%(284.93mg/kg) in the $25^{\circ}C$ and in the $37^{\circ}C$, respectively, were produced. Accordingly, acetic acid generated from poultry manure was characteristic of being mainly produced in more than $25^{\circ}C$. 2. Amounts of propionic acid generated were 238.56mg/kg, 162.14mg/kg and 155.49mg/kg for swine, poultry, and cattle manure, respectively, during the period of incubation. In the case of swine manure, 78.52%(187.32mg/kg) of propionate emitted from all the temperature treatments was produced in the $25^{\circ}C$ and 79.1% of them was intensively emerged from 3day, 4day and 5day of the $25^{\circ}C$ treatment. In the case of poultry manure, 35.12%(56.95mg/kg) and 45.89%(74.40mg/kg) of the propionate amounts were produced in the $25^{\circ}C$ and in the $37^{\circ}C$, respectively. In the case of cattle manure, 28.21% (43.86mg/kg) and 49.30% (76.66mg/kg) of the propionate amounts were produced in the $10^{\circ}C$ and in the $25^{\circ}C$, respectively. Accordingly, propionate evolved from poultry manure was characteristic of being mainly produced in more than $25^{\circ}C$ and from cattle manure, in less than $25^{\circ}C$, respectively. 3. Amount of butyric acid generated were 1,463.87mg/kg, 96.72mg/kg and 129.18mg/kg for swine, poultry, and cattle manure, respectively, during the period of incubation. The time intensively emerged from the period of incubation was differently generated from the incubation temperature and animal feces. 4. Amounts of iso-valeric acid generated were 6,885.99mg/kg, 399.28mg/kg and 307.47mg/kg for swine, cattle and poultry manure, respectively, during the period of incubation. In the case of swine and cattle manure, 28.22%(1,943.52mg/kg) and 48.56%(193.90mg/kg) in the $25^{\circ}C$, 68.76%(4,734.90mg/kg) and 46.93%(187.40mg/kg) in the $37^{\circ}C$, respectively, were occupied. Accordingly, iso-valeric acid evolved from swine and cattle manure was characteristic of being mainly produced in more than $25^{\circ}C$. In the case of poultry manure, 59.89%(184.13mg/kg) of iso-valeric acid generated from all the temperature treatments was produced in the $37^{\circ}C$ and 100% of them was intensively emerged from 2 day and 3 day of the $37^{\circ}C$ treatment.

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