• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.441-445
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• 1999

Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. Material and Method: The blood sample of habitual aborter with high fasting homocysteine level was tested by PCR - RFLP method. Results: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, corresponding to Ala to Val. Conclusions: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.

• Clinical and Experimental Reproductive Medicine
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• v.28 no.3
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• pp.247-253
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• 2001

Objective: To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. Material and Method: The blood samples of patients with recurrent spontaneous abortion were tested by PCR-RFLP method. Results: Of 51 cases of study group, 14 (27.5%) were normal, 25 (49.0%) were heterozygosity, and 12 (23.5%) were homozygosity. Of 58 cases of control group, 20 (34.5%) were normal, 30 (51.7%) were heterozygosity, and 8 (13.8%) were homozygosity. But the difference between two groups was not significant (p=0.190). Conclusion: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the study for MTHFR mutation should be included in the workup of recurrent spontaneous abortion.

• Clinical and Experimental Reproductive Medicine
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• v.29 no.3
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• pp.187-193
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• 2002

Objective : To analyze the interrelationship between homocysteine and methylenetetrahydrofolate reductase (MTHFR) mutation in patients with recurrent spontaneous abortion. Material and Method: Homocysteine and MTHFR mutation were tested by fluorescent polarizing immunoassay and PCR-RFLP method, respectively. Results: In patients with homocysteine level less than 5 ?mol/L, there was no case of normal group but there were four cases of heterozygosity and one case of homozygosity. In patients with homocysteine level 5$\sim$10 ? mol/L, the number of normal, heterozygosity and homozygosity group were eleven, eighteen and eight, respectively. In patients with homocysteine level $10{\sim}15$ ? mol/L, the number of normal, heterozygosity and homozygosity group were four, one and one, respectively. In patients with homocysteine level more than 15 ? mol/L, there was no case of normal and heterozygosity group but there were two cases of homozygosity. Conclusions: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. And there was a significant relationship between homocysteine and MTHFR mutation.

• Journal of Chest Surgery
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• v.43 no.6
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• pp.824-828
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• 2010

The cause of primary spontaneous pneumothorax (PSP) is obvious. Recently, the FLCN mutation was suggested to be a causal factor in PSP. A 47-year-old Korean male patient with chief complaint of repetitive PSP had numerous emphysematous bullae and multiple large cysts based upon high resolution computer tomography. Here we report a case of PSP with an FLCN c.468_470delTTC mutation.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.17
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• pp.7149-7152
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• 2014

A large number of epidemiological studies have demonstrated that obesity is a risk factor for several human cancers. Several animal studies using rodents with diet-induced or genetic obesity have also demonstrated that obesity can promote tumor development. However, the effects of obesity on the early stages of carcinogenesis, and especially on the spontaneous occurrence of somatic gene mutations, remain unclear. To investigate the effects of obesity on the rate of spontaneous gene mutations, we performed reporter gene mutation assays in liver, kidney, and colon, organs in which obesity appears to be associated with cancer development on the basis of epidemiological or animal studies, in mice with high fat diet (HFD)-induced obesity. Six-week-old male and female C57BL/6 gpt delta mice were fed HFD or standard diet (STD) for 13 or 26 weeks. At the end of the experiments, reporter gene mutation assays of liver, kidney, and colon were performed. Final body weights and serum leptin levels of male and female mice fed HFD for 13 or 26 weeks were significantly increased compared with corresponding STD-fed groups. Reporter gene mutation assays of liver, kidney, and colon revealed that there were no significant differences in gpt or $Spi^-$ mutant frequencies between STD- and HFD-fed mice in either the 13-week or 26-week groups. These results indicate that HFD treatment and consequent obesity does not appear to influence the spontaneous occurrence of somatic gene mutations.

• Journal of Chest Surgery
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• v.50 no.5
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• pp.386-390
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• 2017

$Birt-Hogg-Dub{\acute{e}}$ syndrome (BHDS) is a rare disease with autosomal dominant inheritance that manifests through skin tumors, pulmonary cystic lesions, and renal tumors. A mutation of FLCN located on chromosome 17p11.2, which encodes a tumor-suppressor protein (folliculin), is responsible for the development of BHDS. We report the case of a patient presenting with spontaneous pneumothorax, in whom a familial genetic study revealed a novel nonsense mutation: $p.(Arg379^*)$ in FLCN.

• Journal of the Korean Society of Tobacco Science
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• v.17 no.1
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• pp.27-32
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• 1995

A new flue-cured tobacco mutant line BU 8832-85 was developed at Taegu Experiment Station, Korea Ginseng and Tobacco Research Institute in 1994. KF 8832-85 was resulted from a cross of flue-cured cultivars NC 95$\times$NC 2326, and developed by a pedigree system of breeding ; initial selection was made by plant type and resistance to bacterial wilt(BW) disease(heudomonas solanaceamm) in the F2 generation under the natural field conditions infested with the pathogen. One white flowered plant was occurred by spontaneous mutation in a certain line among the F3 generatioin while the others were pink. Six plants from the seeds by selfing were selected at the field infested with the pathogen among 240 populations with white flowering in the F4, KF 8832-85 was selected based on yield and leaf quality trials among 6 lines in Fs generation. BCF 8832-85 was compared with its Parent for certain agronomic and chemical characteristics at Taegu Experiment Station in 1993 and 1994. The results showed that KF 8832-85 have white flower, the stalk height was approximately that of NC 2326 but averaged about loom taller than NC 95. It produced ground suckers as much as NC 95, and did not breakdown leaf at the same as WC 2326. KF 8832-85 have high resistance to bacterial wilt disease. Yield of KF 8832-85 was 10 and 18% higher then that of NC 2326 and WC 95, respectively. Price per Kg was equal to that of NC 2326. The contents of nicotine and reducing sugar did not differ significantly from NC 95, while total nitrogen was significantly lower than NC 95. Therefore, the new mutant line is genetically stable for agronomic and chemical characteristics and provides a source of bacterial wilt disease resistance for use in breeding resistant flue-cured cultivars. Key words : Mutant line, White flower, Spontaneous mutation.

• Journal of Veterinary Clinics
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• v.19 no.2
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• pp.195-198
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• 2002

To identify mutations in exons 5 to 8 of the p53 tumor suppressor gene, we have analysed in 12 spontaneous canine tumors. In a malignant mast cell tumor, a 1 base pair alteration AGT $\longrightarrow$AGC (silent point mutation, serine) in codon 249 in exon 8 was detected. And the mammary gland adenocarcinoma was found to have a mis-sense point mutation (CCT $\longrightarrow$ TCT) in codon 285 in exon 8.

• Microbiology and Biotechnology Letters
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• v.22 no.6
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• pp.584-592
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• 1994

Several mutation procedures have been compared to obtain an ethanol-tolerant Saccha- romyces diastaticus strain secreting glucoamylase. These procedures include spontaneous mutation, EMS treatment, UV irradiation, and combination of EMS treatment and UV irradiation. All these methods were followed by adaptation of the yeast cells to gradually higher ethanol concentration. Among these procedures, the combined method of EMS treatment and UV irradiation gave the promising result, i.e. the ethanol tolerance of the yeast increased from 11.5%(v/v) to 14.0%(v/v). Respiratory deficient petite mutants of industrial and ethanol-tolerant yeast strains have been isola- ted and hybridized with haploid S. diastaticus strains. The resulting hybrids showed increased ethanol tolerance and starch-fermentability.

• Radiation Oncology Journal
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• v.17 no.3
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• pp.203-208
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• 1999

Purpose : To evaluate whether spontaneous apoptosis has prognostic value among patients with squamous cell carcinoma of lung. Materials and Methods : Material from 19 patients who received thoracic irradiation between 1990 and 1994 was analyzed. Their stages were II (1), IIIa (8), IIIb (5), and IV (5). Patients were observed from 5 to 67 months (median : 17 months). The spontaneous apoptosis index (AI) and p53 mutation were measured by immunohistochemical stains. Results : AI was found to range from 0 to $1\%$ (median $0.4\%$). Patients with low AI ($AI{\leq}$median) had a much higher distant metastasis rate at diagnosis than patients with high AI. By analysis of prognostic factors for survival, M stage was significant in univariate analysis. AI, chemotherapy, M stage, T stage, and stage were significant in multivariate analysis. The correlation between the AI and p53 mutation was not seen. Conclusion : AI was related with distant metastasis at diagnosis and not with p53 mutation. Also low AI group tended to have shorter survival time than high AI group.