Background : DNA repair plays a crucial role in protection from cancer-causing agents. Therefore, a reduced DNA repair capacity can increase the susceptibility to lung cancer. The XPC gene contains 15 exons and encodes a 940 amino acid protein that plays a central role in DNA damage recognition of the nucleotide excision repair pathway, which is a major DNA repair mechanisim removing the bulky-helix distorting DNA lesions caused by smoking. Recently several polymorphisms in the XPC gene were identified. In addition, it is possible that these polymorphisms may affect the DNA repair capacity, which modulate cancer susceptibility. The relationship between codon 499 and 939 polymorphisms, and a poly(AT) insertion/deletion polymorphism in the XPC gene, and the lung cancer risk were investigated. Materials and Methods : The genotypes were determined using either PCR or PCR-RFLP analysis in 219 male lung cancer patients and 150 healthy males controls. Results : The frequencies of the genotypes (Val499Ala, PAT and Lys939Gln) among the cases were not significantly different from those of the controls. There was no significant associantion between these polymorphi는 and the lung cancer risk when the analyses were stratified according to age, smoking status and the pack-years of smoking. Moreover, the genotypes had no apparent relationship with any of the histological types of lung cancer. There was a linkage disequilibrium among the Val499Ala, PAT and Lys939Gln polymorphisms. The PAT polymorphism had a strong linkage disequilibrium with the Lys939Gln polymorphism (kappa value=0.87). The XPC haplotypes showed no significant association with the lung cancer risk. Conclusion : These results suggest that XPC Val499Ala, PAT and Lys939Gln polymorphisms are not major contributors to the individual lung cancer susceptibility in Koreans.
Lin, Hai Hua;Kim, Hee-Youn;Yun, Yeo-Jun;Park, Chan Geun;Kim, Bum-Joon;Park, Young-Gil;Kook, Yoon-Hoh
Tuberculosis and Respiratory Diseases
/
v.63
no.2
/
pp.128-138
/
2007
Backgrounds: Mutations of katG and inhA (ORF and promoter) are known to be related to isoniazid (INH) resistance of Mycobacterium tuberculosis. Because reports on these mutations in Korean isolates are limited (i.e. only the frequency of katG codon 463 was evaluated.), we tried to know the kinds of mutations of two genes and their frequencies in INH resistant Korean M. tuberculosis strains. Methods: PCR was performed to amplify katG (2,223 bp), inhA ORF (-77~897, 975 bp), and inhA promoter (-168~80, 248 bp) from 29 multidrug resistant M. tuberculosis (MDR-TB) DNAs prepared by bead beater-phenol method. Their sequences were determined and analyzed by ABI PRISM 3730 XL Analyzer and MegAlign package program, respectively. Results: All of the isolates had more than one mutation in katG or inhA gene. Twenty seven (93%) of 29 tested strains had katG mutations, which suggests that katG is a critical gene determining INH resistance of M. tuberculosis. Amino acid substitutions, such as Arg463Leu and Ser315Thr, due to point mutations of the katG were the most frequent (62.1% and 55.2%) mutations. In addition, deletion of the katG gene was frequently observed (17.2%). Analyzed Korean MDR-TB isolates also had variable inhA mutations. Point mutation of inhA promoter region, such as -15 ($C{\rightarrow}T$) was frequently found. Substitution of amino acid (Lsy8Asn) due to point mutation ($AAA{\rightarrow}AAC$) of inhA ORF was found in 1 isolate. Interestingly, 14 point mutated types that were not previously reported were newly found. While four types resulted in amino acid change, the others were silent mutations. Conclusions: Although it is not clear that the relationship of these newly found mutations with INH resistance, they show marked diversity in Korean MDR-TB strains. It also suggests their feasibility as a molecular target to supplement determining the INH resistance of clinical isolates because of the possible existence of low-level INH resistant strains.
The areas of soybean (Glycine max (L.) Merrill) cultivation in Gangwon-do have increased due to the growing demand for well-being foods. The soybean barcode system is a useful tool for cultivar identification and diversity analysis, which could be used in the seed production system for soybean cultivars. We genotyped cultivars using 202 insertion and deletion (InDel) markers specific to dense variation blocks (dVBs), and examined their ability to identify cultivars and analyze diversity by comparison to the database in the soybean barcode system. The genetic homology of "Cheonga," "Gichan," "Daewang," "Haesal," and "Gangil" to the 147 accessions was lower than 81.2%, demonstrating that these barcodes have potentiality in cultivar identification. Diversity analysis of one hundred and fifty-three soybean cultivars revealed four subgroups and one admixture (major allele frequency <0.6). Among the accessions, "Heugcheong," "Hoban," and "Cheonga" were included in subgroup 1 and "Gichan," "Daewang," "Haesal," and "Gangil" in the admixture. The genetic regions of subgroups 3 and 4 in the admixture were reshuffled for early maturity and environmental tolerance, respectively, suggesting that soybean accessions with new dVB types should be developed to improve the value of soybean products to the end user. These results indicated that the two-dimensional barcodes of soybean cultivars enable not only genetic identification, but also management of genetic resources through diversity analysis.
Kim, Jin A;Kim, Jung Sun;Hong, Joon Ki;Lee, Yeon-Hee;Lee, Soo In;Jeong, Mi-Jeong
Journal of Plant Biotechnology
/
v.44
no.4
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pp.438-447
/
2017
Flowering is one of the most important development traits related to the production of Brassica rapa crops. After planting, a sudden low temperature triggers premature flowering, which leads to a reduction in the yield and quality of harvested production. Therefore, understanding the mechanism of flowering control is important in the agricultural productivity for preventing Brassica rapa crops. Vernalization is generally known as the main factor of flowering in the Brassica plant. However, in the subspecies of Brassica rapa, some accession such as Yellow sarson and Komatsuna display the flowering phenotype without vernalization. Circadian genes, which diurnally regulate plant physiology, have a role for photoperiodic flowering but are related to the regulation of the vernalizarion mechanism. In this report, the 22 B. rapa accession were divided into two groups, vernalization and non-vernalization, and the sequenced circadian gene, BrPRR1s. Among them, the BrPRR1b gene was found to have deletion regions, which could classify the two groups. The PCR primer was designed to amplify a short band of 422bp in the vernalization type and a long band of 451bp in the non-vernalization type. This primer set was applied to distinguish the flowering types in the 43 B. rapa accession and 4 Brassica genus crop, Broccoli, cabbage, mustard, and rape. The PCR analysis results and flowering time information of each crop demonstrated that the primer set can be used as marker to discern the flowering type in Brassica crops. This marker system can be applied to the B. rapa breeding when selecting the flowering character of new progenies or introducing varieties at an early stage. In addition, these results displayed that the circadian clock genes can be a good strategy for the flowering control of B. rapa crops.
Purpose : The aim of the present study was to investigate the role of polymorphic cytosine adenine (CA) repeat of the IGF-I gene in the age-related alterations of serum IGF-I levels in healthy children. Methods : Two hundred and forty three normal healthy children (136 boys; 107 girls) aged between 7 and 15 years were enrolled in the present study. The primers were designed to cover the promoter regions containing the polymorphic CA repeat. Data were analyzed using GeneMapper software, version 3.7. All analyses were performed using MEDCALC software packages. Results: Deletion of 2 bp (G, A) following 3' of CA repeat were observed in all Korean children. The CA repeat sequences ranged from 17 to 23, and 19 CA repeat were the most common with an alleles frequency of 39.3 percent. Considering genotypes, 63.8 percent of subjects were homozygote or heterozygote for 19 CA repeat (192 bp allele), suggesting that this is wild type allele from which all other alleles originated in Korean children. Homozygote for 19 CA repeat were 14.7 percent, heterozygote for 19 CA repeat was 49.1 percent and 19 CA noncarriers totalled 36.2 percent. In 19 CA repeat noncarriers, the mean height, weight and serum IGF-I level were lower compared with those of 19 CA homozygous carriers, but statistically not significant. Correlations between serum IGF-I level and age according to the IGF-I genotypes revealed statistically significant relationships in the all groups, in the 19 CA repeat carrier group and, even in the noncarrier group. Conclusions : There were no significant differences of the mean height, weight and serum IGF-I levels among three different genotype groups. Also, there were no significantly different correlations between 19 CA repeat polymorphisms and serum IGF-I levels, according to genotype. Our results suggest that the IGF-I 19 CA repeat gene polymorphism is not associated with circulating IGF-I levels in healthy children.
p53 is the most frequently mutated gene in female breast cancer tissues and the prognosis of breast cancer could be changed by mutation of the gene. This study was performed to examine risk factors for breast cancer subtypes classified by p53 mutation and to investigate the roles of p53 gene mutation in carcinogenesis of breast cancer. The study subjects were 81 breast cancer patients and 121 controls who were matched to cases 1:1 or 1:2 age, residence, education level and menopausal status. All the subjects were interviewed by a well-trained nurse with standardized questionnaire on reproductive factors, and wire asked to fill the self-administrative food frequency questionnaire. p53 gene mutation in the cancer tissue was screened using polymerase chain reaction (PCR)-single strand conformational polymorphism (SSCP) method. Mutation type was identified by direct sequencing of the exon of which mobility shift was observed in SSCP analysis. Mutations were detected in p53 gene of 25 breast cancer tissues. By direct sequencing, base substitutions were found in 20 cancer tissues (10 transition and 10 transversion), and frame shift mutations in 5 (4 insertions and 1 deletion). For the whole cases and controls, risk of breast cancer incidence decreased when the parity increased, and increased when intake amount of total calory, fat, or protein increased. Eat and protein were statistically significant risk factors for breast cancer with p53 mutation. For breast cancer without p53 mutation, protein intake was the only significant dietary factor. These results suggest that causes of p53 positive breast lancer would be different from those of p53 negative cancer, and that dietary factors or related hormonal factors induce mutation of p53, which may be the first step of breast cancer development or a promoter following some unidentified genetic mutations.
Background : The $p16^{INK4a}$ (p16) twnor suppressor gene is frequently inactivated in hwnan non-small cell lung cancers (NSCLCs), predominantly through homozygous deletion or in association with aberrant promotor hypermethylation. Death-associated protein kinase (DAPK) gene influences interferon $\gamma$-induced apoptotic cell death and has important role in metastasis of lung cancer in animal model. Hypermethylation of promoter region of DAP kinase gene may suppress the expression of this gene. Methods : This study was performed to investigate the aberrant methylation of p16 or DAP kinase in 35 resected primary NSCLCs by methylation-specific PCR (MSP), and demonstrated frequency, diagnostic value and clinical implication of aberrant methylation of two genes. Results : Thirty-two cases were male patients, and 3 cases were female patients with an average age was 57. $8{\pm}10.5$ years. The histologic types of lung cancer were 22 of squamous cell carcinoma, 12 of adenocarcinoma, 1 of large cell carcinoma. Pathologic stages were 11 cases of stage I (1 IA, 10 IB), 13 cases of stage II (1 IIA, 12 IIB), and 11 cases of stage III (9 IIIA, 2 IIIB). Regarding for the cancer tissue, p16 aberrant methylation was noted in 13 case of 33 cases (39.4%), DAP kinase in 21 cases of 35 cases (60%). Age over 55 year was associated with p16 aberrant methylation significantly (p<0.05). Methylation status of two genes was not different by smoking history, histologic type, size of tumor, lymph node metastasis and disease progression of lung cancer. There was no correlation between p16 and DAP kinase hypermethylation. Conclusion: This investigation demonstrates that aberrant methylation of p16 tumor suppressor gene or DAP kinase showed relatively high frequency (74.3%) in NSCLCs, and that these genes could be a biologic marker for early detection of lung cancer.
Park, Hee-Bok;Han, Sang-Hyun;Kang, Yong-Jun;Shin, Moon-Cheol;Lee, Jae-Bong;Cho, In-Cheol
Journal of Life Science
/
v.27
no.3
/
pp.295-300
/
2017
This study examined the association between genotypes of the isocitrate dehydrogenase 3, beta subunit (IDH3B) gene and economic traits in an $F_2$ population of Duroc and Jeju (South Korea) native black pigs (JBPs). The genotypes was determined the presence/absence of a 304-bp insertion/deletion fragment in the promoter region of the IDH3B gene for JBP, Duroc, and their $F_1$ and $F_2$ progeny. Three genotypes (AA, AB and BB) were found in the $F_1$ and $F_2$ populations, but there was no AA genotype found in JBP and no BB in Duroc. Association analysis results showed the significant differences with carcass weights (CW), backfat thicknesses (BFT) and eye muscle area (EMA) (p<0.05), but not with growth traits including body weights and average daily gains at different stages, reproductive traits including teat numbers, and crude fat contents (CFAT) measured in longissimus dorsi (p>0.05). The $F_2$ pigs possessing the IDH3B BB homozygote had heavier CW ($72.92{\pm}11.133kg$), thicker BFT ($25.75{\pm}6.06mm$), and larger EMA ($23.82{\pm}4.825cm^2$) than those from the other genotypes (p<0.05). These results were estimated that there are biological roles related with IDH3B genotypes resulting development of EMA, BFT, and CW but not with intramuscular fat deposition during late period of pig production. Our findings suggest that the 304-bp insertion allele of porcine IDH3B may be a genetic marker for marker assistant selection for improving meat productivity of the Jeju Black pig and Duroc-related molecular breeding systems.
In this study, we collected 29 Kenaf (Hibiscus cannabinus L.) genetic resources from 10 countries to confirm the possibility of the introduction into Korea. The Kenaf (Hibiscus cannabinus L.) has the broad industrial use like feed and the 5 times more strong $CO_2$ absorption capacity compared to general plant. So recently it is considered as a good industrial source. We analyzed ecotype, growth and development, yield and feed value of collected resources. They were divided into 3 groups depending on flowering time, early maturing type blooming in early July, mid-late maturing type blooming from end of August to early September and late maturing type blooming in end of October. Early maturing type could get fruitful seed but dropped yield (average 7,895 kg/10a) and late maturing type could get high yield (average 12,572 kg/10a) but deletion. The other side mid-late maturing type could get yield over a certain level (average 11,207 kg/10a) and fruitful seed was ensured. The yields analyzed by resources indicated that K12 (Hongma 300) collected in China, K25 from India, K22 from Russia and K21 (Khonkaen 60) variety from China were more than 13,500 kg per 10a. Feed value of early maturing type had inclined to more better than other types, but like dry digestible matter (DDM) and dry matter intake (DMI) of some late maturing types like K12, K21, K22 which had a high yielding ability were more better than that of early maturing types'. So relative feed value (RFV) which considered comprehensive item for feed value were indicated K21 was 102.5, K12 was 116.2 and K22 was 120.2. 'Jangdae' the variety developed in Korea which could complement of other types' had a good quality for yield 10,975 kg/10a and 12.5% crude protein content and 101.9 of the relative feed value. So we need to be taken power to collection of mid-late maturing types resources.
Zoysiagrasses are important turf plants used for school playgrounds, parks, golf courses, and sports fields. The two most popular zoysiagrass species are Zoysia japonica and Zoysia sinica. These are widely distributed across different growing zones and are morphologically distinguishable from each other; however, it is phenotypically difficult to differentiate those that grow along the coastal line from those in beach area habitats. A combination of morphological and molecular approaches is desirable to efficiently identify these two plant cultivars. In this study, we used a rapid identification system based on DNA barcoding of the nrDNA-internal transcribed spacer (ITS) regions. The nrDNA-ITS regions of ITS1, 5.8S nrDNA, and ITS2 from Z. japonica, Z. sinica, Agrostis stolonifera, and Poa pratensis were DNA barcoded to classify these grasses according to their molecular identities. The nrDNA-ITS sequences of these species were found at 686 bp, 687 bp, 683 bp, and 681 bp, respectively. The size of ITS1 ranged from 248 to 249 bp, while ITS2 ranged from 270 to 274 bp. The 5.8S coding region ranged from 163 - 164bp. Between Z. japonica and Z. sinica, nineteen (2.8%) nucleotide sites were variable, and the G+C content of the ITS region ranged from 55.4 to 63.3%. Substitutions and insert/deletion (indel) sites in the nrDNA-ITS sequence of Z. japonica and Z. sinica were converted to cleaved amplified polymorphic sequence (CAPS) markers, and applied to the Zoysia grasses sampled to verify the presence of these markers. Among the 62 control and collected grass samples, we classified three groups: 36 Z. japonica, 22 Z. sinica, and 4 Z. japonica/Z. sinica hybrids. Morphological classification revealed only two groups; Z. japonica and Z. sinica. Our results suggest that used of the nrDNA-ITS barcode region and CAPS markers can be used to distinguish between Z. japonica and Z. sinica at the species level.
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