• 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.

• 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.

• 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.