• 한국작물학회지
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• 제10권
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• pp.45-50
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• 1971

방사선조사시 열처리의 효과를 알기 위하여 수도종자에 방사선조사시 열전후처리를 행하였던바$M_1$ 세대의 생물학적인 반응 및 $M_2$ 세대의 변이율에 대해 몇가지 결과를 얻었다. 1. 방사선선량 20kR에서 열전처리는 방사선단독조사에 비해 생물학적인 장해를 적게하고 변이율을 증가시켰다. 2. 방사선단독조사 및 조사전열처리에 비해 heat shocking으로서 열후처리하는 것은 변이율을 증가시켰다. 3. 열전처리에 의해 $M_1$ 세대의 장해가 적고 변이율이증가되는 가장 효과적인 열처리온도 및 시간은 6$0^{\circ}C$에서 30분간이었다. 4. 열처리는 방사선단독조사에 비해 mutation spectrum을 달리했다.

• 한국환경독성학회:학술대회논문집
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• 한국환경독성학회 1996년도 제19회정기학술대회(The 19th Symposium of the Korean Society of Environmental Toxicology)
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• pp.64-64
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• 1996

Transgenic animal and cell line models which are recently developed in toxicology field combined with molecular biological technique, are powerful tools for studying of mutation in vivo and in vitro, respectively. The Big Blue mutagenesis assay system is one of the most widely used transgenic systems. Especially, for the study of direct acting mutagens, Big Blue cell line is very useful and powerful to evaluate mutagenicity because the mutation frequency and mutationspectrlun showed no distinct differences between cell line and animal. The Big Blue cell lines carry stably integrated copies of lambda shuttle vector containing lac I gene as a mutational target. These lambda shuttle vectors are useful for various mutagenesis related studies in eukaryotic system due to their ability to be exposed mutagen and then transfer a suitable target DNA sequence to it convenient organism for analysis. We tried to assess the mutagenic effect of 4-NQO with Big Blue cell line. After the treatment of 4-NQO, genomic DNA was isolated and lambda shuttle vector was packaged by in Vitro packaging and then these were plated on bacterial host in the presence of X-gal to screen mutation in the lac I. We determined MF as a ratio of blue plaques versus colorless plaques and now undergoing the mutation spectrum of 4-NQO in lac J gene sequence.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.22-30
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• 2024

Purpose: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Mutation detection is complex owing to the large size of the NF1 gene, the presence of a high number of partial pseudogenes, and the great variety of mutations. We aimed to study the mutation spectrum of NF1 gene in Korean patients with NF1. Materials and Methods: We have analyzed total 69 unrelated patients who were clinically diagnosed with NF1. PCR and sequencing of the NF1 gene was performed in all unrelated index patients. Additionally, multiplex ligation-dependent probe amplification (MLPA) test of the NF1 and SPRED1 gene analysis (sequencing and MLPA test) were performed in patients with negative results from NF1 gene sequencing analysis. Results: Fifty-five different variants were identified in 60 individuals, including six novel variants. The mutations included 36 single base substitutions (15 missense and 21 nonsense), eight splicing mutations, 13 small insertion or deletions, and three gross deletions. Most pathogenic variants were unique. The mutations were evenly distributed across exon one through 58 of NF1, and no mutational hot spots were found. When fulfilling the National Institutes of Health criterion for the clinical diagnosis of NF1, the detection rate was 84.1%. Cafe-au-lait macules were observed in all patients with NF1 mutations. There is no clear relationship between specific mutations and clinical features. Conclusion: This study revealed a wide spectrum and genetic basis of patients with NF1 in Korea. Our results aim to contribute genetic management and counseling.

• 한국육종학회지
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• 제49권3호
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• pp.150-156
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• 2017

장미는 국화, 난과 더불어 3대 화훼작물에 속하며, 절화 및 분화, 조경, 꽃꽂이 등 활용범위가 광범위하다. 본 연구는 장미의 발근된 삽수와 발근 전 삽수에 감마선을 조사하여 생존율과 돌연변이 발생빈도, 변이 스펙트럼을 비교하기 위해 실시하였다. 실험재료로는 스프레이형 장미 3품종('러블리디아', '엘로우바베', '햇살')과 스탠다드형 장미 2품종('비탈', '아쿠아')를 사용하였으며, 감마선 조사는 발근된 삽수와 발근 전 삽수로 구분하여 한국원자력연구원 저준위 감마선 조사시설에서 70Gy로 조사하였다. 발근 전 삽수의 감마선 처리구는 발근 후 생존개체만 정식하였으며, 발근된 삽수의 감마선 처리구는 바로 정식하였다. 생존율과 돌연변이 발생빈도, 변이 스펙트럼은 정식 후 30주에 비교하였다. 그 결과 발근된 삽수의 감마선 처리구는 생존율과 돌연변이 발생빈도가 각각 39.4%~55.1%, 0.7%~7.4%로 나타났으며, 발근 전 삽수의 감마선 처리구는 각각 16.4%~50.8%, 0%~5.1%로 확인되었다. 결론적으로 발근된 삽수가 발근 전 삽수에 비해 감마선 조사 시 상대적으로 높은 생존율과 돌연변이 발생빈도를 보인다. 하지만 생존개체만을 대상으로 돌연변이 발생빈도를 비교할 경우 발근 삽수의 경우 1.8%~14.1%, 발근 전 삽수의 경우 0%~10%로 품종간의 차이는 다소 있으나 전체적으로 큰 차이가 없는 것을 확인할 수 있다. 또한, 발근 삽수와 미발근 삽수 모두 다양한 화색, 화형, 꽃잎 수의 변이가 확인되어 변이 스펙트럼에서도 큰 차이를 확인할 수 없었다. 미발근 삽수를 방사선 처리에 바로 이용해도 발근 삽수가 차이가 없으므로 앞으로 이용 가능할 것으로 판단된다.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.24-27
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• 2018

Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused by an SMC1A mutation is an extremely rare disease characterized by phenotypes milder than those of classic CdLS. In the Republic of Korea, based on a literature review, one family with SMC1A-related CdLS with mild phenotypes has been genetically confirmed to date. In this study, we describe the clinical features of a Korean boy with a hemizygous novel missense mutation and his mother with a heterozygous mutation, i.e., c.2447G>A (p.Arg816His) in SMC1A, identified by multi-gene panel sequencing. The proband had a mild phenotype with typical facial features and his mother exhibited a mild, subclinical phenotype. This study expands the clinical spectrum of patients with X-linked CdLS caused by SMC1A variants. Moreover, these findings reinforce the notion that a dominant negative effect in a carrier female with a heterozygous mutation in SMC1A results in a phenotype milder than that in a male patient with the same mutation.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2001년도 International Symposium on Dietary and Medicinal Antimutgens and Anticarcinogens
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• pp.181-181
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• 2001

1,2-Dibromo-3-chloropropane (DBCP), a soil fumigant against nematodes, is a genotoxic carcinogen and also is classified by World Wildlife Fund as endocrine disruptors. DBCP has been extensively studied on genotoxicity, carcinogenicity, and damage in male reproductive-related organs. However, information on precise mechanism of mutagenesis and carcinogenesis of DBCP is yet unknown. Thus the mutation spectrum and mechanism of DBCP was determined in lacI transgenic Big Blu $e^{R}$ Rat2 fibroblast cell lines.(omitted)d)

• Journal of applied mathematics & informatics
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• 제30권1_2호
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• pp.183-200
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• 2012

A two-strain epidemic model with an age structure mutation and varying population is studied. By means of the spectrum theory of bounded linear operator in functional analysis, the reproductive numbers according to the strains, which associates with the growth rate ${\lambda}^*$ of total population size are obtained. The asymptotic stability of the steady states are obtained under some sufficient conditions.

• 한국유전체학회:학술대회논문집
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• 한국유전체학회 2006년도 The 15th Korean Genome Organization Conference KOGO 2006 Annual Meeting
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• pp.59-59
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• 2006

• Molecules and Cells
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• 제19권1호
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• pp.114-123
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• 2005

Nitropyrene, the predominant nitropolycyclic hydrocarbon found in diesel exhaust, is a mutagenic and tumorigenic environmental pollutant that requires metabolic activation via nitroreduction and ring oxidation. In order to determine the role of ring oxidation in the mutagenicity of 1-nitropyrene, its oxidative metabolites, 1-nitropyrene 4,5-oxide and 1-nitropyrene 9,10-oxide, were synthesized and their mutation spectra were determined in the coding region of hprt gene of CHO cells by a PCR amplification of reverse-transcribed hprt mRNA, followed by a DNA sequence analysis. A comparison of the two metabolites for mutation frequencies showed that 1-nitropyrene 9,10-oxide was 2-times higher than 1-nitropyrene 4,5-oxide. The mutation spectrum for 1-nitropyrene 4,5-oxide was base substitutions (33/49), one base deletions (11/49) and exon deletions (5/49). In the case of 1-nitropyrene 9,10-oxide, base substitutions (27/50), one base deletions (15/50), and exon deletions (8/50) were observed. Base substitutions were distributed randomly throughout the hprt gene. The majority of the base substitutions in mutant from 1-nitropyrene 4,5-oxide treated cells were $A{\rightarrow}G$ transition (15/33) and $G{\rightarrow}A$ transition (8/33). The predominant base substitution, $A{\rightarrow}G$ transition (11/27) and $G{\rightarrow}A$ transition (8/27), were also observed in mutant from 1-nitropyrene 9,10-oxide treated cells. The mutation at the site of adenine and guanine was consistent with the previous results, where the sites of DNA adduct formed by these compounds were predominant at the sites of purines. A comparison of the mutational patterns between 1-nitropyrene 4,5-oxide and 1-nitropyrene 9,10-oxide showed that there were no significant differences in the overall mutational spectrum. These results indicate that each oxidative metabolite exhibits an equal contribution to the mutagenicity of 1-nitropyrene, and ring oxidation of 1-nitropyrene is an important metabolic pathway to the formation of significant lethal DNA lesions.