• 한국환경성돌연변이발암원학회지
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• 제19권1호
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• pp.7-13
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• 1999

The mouse lymphoma thymidine kinase (tk+/-) gene assay (MOLY) using L5178Y tk+/- mouse lymphoma cell line is one of the mammalian forward mutation assays. It is well known that MOLY has many advantages and more sensitive than the other mammalian forward mutation assays such as x-linked hyposanthine phosphoribosyltransferase (hprt) gene assay. The target gene of MOLY is a heterozygous tk+/- gene located in 11 chromosome of L5178Y tk+/- cell, so it is able to detect the wide range of genetic changes like point mutation, deletion, rearrangement, and mitotic recombination within tk gene or deletion of entire chromosome 11. MOLY has relatively short expression time (2-3 days) compared to 1 week of hprt gene assay. MOLY can also induce relatively high mutant frequency so a large number of events can be recorded. The bimodal distribution of colony size which may indicate gene mutation and chromosome breakage potential of chemicals according to mutation scale such as large normal-growing mutants and small slow-growing mutants can be observed in this assay. The statistical analysis of data can be performed using the MUTANT program developed by York Electronic Research in association with Hazelton as recommended by the UKEMS (United Kingdom Environmental Mutagen Society) guidelines. This report reviewed MOLY using the microtiter cloning technique (microwell assay).

• Mycobiology
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• 제48권2호
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• pp.148-152
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• 2020

We investigated the antifungal susceptibilities and the cyp51 mutant strains among Aspergillus fumigatus clinical isolates obtained from 10 university hospitals in Korea. Of the 84 isolates examined, two itraconazole-resistant isolates were found with no amino acid substitution in the cyp51A/cyp51B genes. However, 19 (23.2%) azole-susceptible isolates harbored amino acid substitutions: Nine isolates harbored one to five mutations in cyp51A with high polymorphism, and 11 isolates exhibited the same Q42L mutation in cyp51B. Overall, a low azole resistance rate and high frequency of cyp51A/cyp51B amino acid substitutions were observed in the azole-susceptible A. fumigatus isolates in Korea.

• 한국육종학회지
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• 제41권1호
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• pp.9-15
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• 2009

Recently, giant embryonic rice and functional rice food are preferred by more consumers, which are attributed to the fact that the embryo has high concentrations of essential amino acids, fatty acids, and vitamins relative to other parts of rice grains. In this report, the heredity and stability of giant embryo mutations in successive generations were analyzed regarding a giant embryonic line, 'P47', induced by T-DNA insertion and a $F_2$ population from a cross between 'P47' and 'Junam'. The mutant lines with increases of 1.5, 1.7 and 1.8 times on embryo length, width and 100-embryo weight to those of the control showed stable inheritance across three generations. The continuous frequency distributions of embryo size in the $F_2$ population showed that the embryo size is a quantitative trait of polygene controlled. In addition, wide range of transgressive segregations of six traits affecting embryo size confirmed exchange of genetic materials and recombination between genes controlling embryo size. Five giant embryo mutant lines selected from the $F_2$ population will be used for artificial selection and improvement of giant embryonic varieties.

• Asian Pacific Journal of Cancer Prevention
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• 제16권5호
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• pp.1707-1713
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• 2015

Eighty six cases of invasive ductal breast carcinomas were utilized to investigate GSTP1 polymorphisms in certain immunohistochemistry (IHC) subtypes of breast cancer with respect to ER, PR and HER2 expression. The frequency of wild allele homozygote, heterozygote and variant allele homozygote genotypes were 46.5%, 52.3% and 1.16% respectively; Whereas 54.3% of the control subjects were GSTP1 wild type allele homozygous, 40.0% were heterozygous and 5.71% mutant allele homozygous. There was dramatic inverted relation between positive IHC ER staining and increasing grade of tumors in general (100%, 88.6%, 40.4%) and especially among tumors with heterozygote genotype of GSTP1 (70%, 35.4%, 22.7). There was increase in positive IHC HER2 staining consistent with higher grades in general (20%, 29.6%, 50.0%), especially among tumors with GSTP1 wild allele homozygote genotype (5.0%, 9.1%, 31.8%). A remarkable reverse relation was also observed between the fraction of IHC hormone receptor phenotype ER+/PR+/ HER2- and increased grade of tumors (60.0%, 45.5%, and 27.3%) especially among tumors with GSTP1 heterozygote genotype, and a similar link was noted regarding ER+/PR-/ HER2- and tumor grade. There was increase in frequency of ER-/PR-/ HER2- (0.0%, 6.8%, and 18.2%) and ER-/PR-/ HER2+ (0.0%, 4.54%, and 40.9%) consistent with the higher grades of tumors in general and especially GSTP1 heterozygote genotype tumors. As a conclusion, there is no correlation between GSTP1 polymorphism and increased risk of breast cancer i.e. the mutant allele is randomly distributed in cancer and control cases. However, there is a link between GSTP1 genotypes and hormone receptor expression status and certain phenotypes of breast cancer, which may have clinical importance.

• 한국미생물·생명공학회지
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• 제11권1호
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• pp.75-79
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• 1983

Bocillus subtilis를 유전공학의 숙주 세포로서 이용하기 위해서는 우선 적당한 vector의 개발이 요구된다. Oxytetracycline의 항생물질을 생산하는 방사선균인 Streptomyces rimosuf IFO 0014로 부터 oxytetracycline-resistant plasmid DNA를 pH 9.0의 phenol-buffer system으로 추출하여 B.subtilis KPM 60[St $r^{R}$-mutant of RM 125 (leu A8, arg 15, hsr $M^{-}$, hsm $M^{-}$)] 1균주에 형질전환시키면서 이 plasmid DNA가 표현되게 하였다. 이때 형질전환의 조건으로서 KPM60을 growth medium에서 3시간, competence medium에서는 30분내지 60분간 그리고 DNA와는 20분동안 접촉시킴으로서 가장 높은 빈도로 형질전환이 일어났다. (대개 $10^{-4}$ 빈도 이상) 또 recipient cell의 competence화에는 oH7.5에서 그리고 형질전환에는 2$0^{\circ}C$에서 최적상태를 보였다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권21호
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• pp.9283-9289
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• 2014

Background: Acute lymphoblastic leukemia (ALL) is the most common cancer diagnosed in children and represents approximately 25% of cancer diagnoses among those younger than 15 years of age. Materials and Methods: This study investigated alterations in the displacement loop (d-loop) region of mitochondrial DNA (mtDNA) as a risk factor and diagnostic biomarker for early detection and diagnosis of acute lymphoblastic leukemia. Using mtDNA from 23 subjects diagnosed with acute lymphoblastic leukemia, the first 450 bp of the d-loop region were amplified and successfully sequenced. Results: This revealed 132 mutations at 25 positions in this region, with a mean of 6 alterations per subject. The d-loop alterations in mtDNA in subjects were all identified as single nucleotide polymorphisms in a homoplasmic distribution pattern. Mutant alleles were observed in all subjects with individual frequency rates of up to 95%. Thirteen mutant alleles in the d-loop region of mtDNA occurred with a high frequency. Novel alleles and locations were also identified in the d-loop of mtDNA as follows: 89 G insertions (40%), 95 G insertions (13%), 182 C/T substitutions (5%), 308 C insertions (19%), and 311 C insertions (80%). The findings of this study need to be replicated to be confirmed. Conclusions: Further investigation of the relationship between mutations in mitochondrial d-loop genes and incidence of acute lymphoblastic leukemia is recommended.

• Nuclear Engineering and Technology
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• 제13권3호
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• pp.161-167
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• 1981

자주달개비(Tradescantia) BNL clone 4430을 본 연구소 감마농장(${\gamma}$-field)에 거리별로 배치하고 ${\gamma}$-선을 3.6mR/day~182R/day의 선량율로 완조사시켜, 이 식물의 수술털에 나타나는 분홍색 체세포돌연변이를 대상으로 돌연변이의 출현율을 조사하는 한편 화기에 미치는 형태변화를 조사하였다. 분홍색 체세포돌연변이율은 22.2R/day의 선량율에서 수술털 1,000개당 85.81$\pm$6.45개로 가장 높았고, 이보다 높은 선량율에서는 오히려 변이율이 감소하여 포화선량효과를 초래하였다. 또한 3.6mR/day의 낮은 선량율체서도 이 체세포돌연변이율이 자연돌연변이율보다 증가하였음을 볼 수 있었으며 비교적 낮은 선량율 조사에서는 꽃, 수술, 수술털등의 형태적 변화가 없이 돌연 변이율만의 증가를 볼수가 있어 감마농장내에서 과수나 화목등 영년식물에 저선량의 완조사를 통해 체세포돌연변이의 유기가 가능할것으로 보이며, 한편 이 식물의 특성을 이용하여 저위 방사선에 의한 유전적변화를 탐지하는데에도 적절한 수단이 될 것 같다.

• 한국동물학회지
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• 제19권1호
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• pp.15-24
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• 1976

1971年부터 1973年까지 安養에서 採集한 Drosophila melanogaster의 蹄2 染色體上에 保有되어 있는 致死因子, 不姙因子 및 可視突無變異體의 頻度를 調査하였다. 1) 致死 및 反致死因子를 保有하고 있는 染色體의 頻度는 3년간 평균 28.2% 로 나타났고, 3年간의 빈도는 큰 差異가 없었다. 2) 安養自然集團의 致死遺傳因子間의 同座率은 0.77%였다. 致死因子로 이한 集團內에서의 elimination rate $(IQ^2)$는 0.0008로 추정되었다. 3) 第2染色體에 保有되어있는 劣性不姙因子는 암컷 9.1%, 수컷 6.8%, 그리고 兩性不姙이 2%로 나타났다. 4) 劣性可視突然變異體인 rbl/rbl과 bw/bw은 第2染色體에서 동협접합자가 될 때 檢出된다. 本實驗에서 rbl 因子는 2.7%였고 bw 因子는 1.3%로 나타났다.

• Asian Pacific Journal of Cancer Prevention
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• 제16권13호
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• pp.5557-5563
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• 2015

Background: Cholelithiasis is associated in 54%-98% of patients with carcinoma of the gallbladder, and a high incidence among females suggests a role of female hormones in the etiology of the disease. Cytochrome $P450C17{\alpha}$ (CYP-17) is a key enzyme involved in estrogen metabolism and polymorphisms in CYP-17 are associated with altered serum levels of estrogens. Thus, we investigated whether the CYP-17 MspA1 gene polymorphism might impact on risk of gall bladder cancers or gallstones, as well as to determine if this gene polymorphism might be linked with estrogen serum levels and lipid profile among the North Indian gall bladder cancer or gallstone patients. Materials and Methods: CYP-17 gene polymorphisms (MspA1) were genotyped with PCR-RFLP in cancer patients (n=96), stone patients (n=102), cancer + stone patients (n=52) and age/sex matched control subjects (n= 256). Lipid profile was estimated using a commercial kit and serum estrogen was measured using ELISA. Results: The majority of the patients in all groups were females. The lipid profile and estrogen level were significantly higher among the study as compared to control groups. The frequency of mutant allele A2 of CYP17 MspA1 gene polymorphism was higher among cancer (OR=5.13, 95% CI+3.10-8.51, p=0.0001), stone (OR=5.69, 95%CI=3.46-9.37, p=0.0001) and cancer + stone (OR=3.54, 95%CI=1.90-6.60, p=0.0001) when compared with the control group. However there was no significant association between genotypes of CYP17 MspA1 gene polymorphism and circulating serum level of estrogen and lipid profile. Conclusions: A higher frequency of mutant genotype A1A2 as well as mutant allele A2 of CYP-17 gene polymorphism is significantly associated with risk of gallbladder cancer and stones. Elevated levels of estrogen and an altered lipid profile can be used as predictors ofgall bladder stones and cancer in post menopausal females in India.

• Journal of Preventive Medicine and Public Health
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• 제31권1호
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• pp.1-14
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• 1998

The genetically determined CYP2D6 activity as considered to be associated with cancer susceptibility with inter-individual variation. Genetic polymorphism of CYP2D6(B) and CYP2D6(T) was determined by the two polymerase chain reaction(PCR) and BstN1 and EcoN1 restriction fragment length polymorphisms(RFLP) for 67 lung cancer cases and 95 healthy volunteer controls. The cases were composed of 26 squamous cell carcinoma, 14 small cell carcinoma, 10 adenocarcinoma, 3 large cell undifferentiated carcinoma, and 14 not histologically diagnosed. The results were gained from the 142 subjects (57 cases and 85 controls) who observed successfully in two PCR and BstNl/EcoN1 RELP. Only one and no mutant allele of the CYP2D6(B) and CYP2D6(T) gene was detected, that is, the frequency of mutant allele was very low; 0.7%(1/142) and 0%(0/142), respectively. Detected mutant allele of the CYP2D6(B) was beterozygous type(WM). The odds ratios for lung cancer susceptibility with CYP2D6(B) and CYP2D6(T) genotype were not calculated. These results are similar to the previous understanding that the mutant allele is very rare in Orientals compared to Caucasians, therefore, it considered that CYP2D6(B) and CYP2D6(T) genotypes have maybe no association with lung cancer susceptibility in Koreans. This is the basic data of CYP2D6(B) and CYP2D6(T) genotypes for Koreans. It would be hepful for further study to determine lung cancer susceptibility of Koreans with the data about CYP1A1, CYP2E1, GSTM1 from future study.