• 농약과학회지
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• 제20권4호
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• pp.286-292
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• 2016

우리나라 경기북부지역은 말라리아 위험지역으로 말라리아는 주로 이 지역의 우점종인 Anopheles sinensis에 의해 감염되는 것으로 알려져 있다. 이들에 대한 방제는 주로 피레스로이드계 살충제가 사용되고 있고 지금까지의 살충제 저항성 조사에서 지속적으로 저항성이 나타나고 있다. 이에 우리나라 말라리아 주요 매개모기인 An. sinensis의 피레스로이드계 살충제 저항성을 조사하여 말라리아 위험지역에서의 매개모기 방제에 대한 실태를 조사하고자 한다. 본 연구를 위하여 파주, 김포, 강화 세 지역에서 채집된 An. sinensis를 DNA 염기서열 분석을 통하여 저항성 유전형질을 분석하였다. 파주는 동형 감수성 유전형질은 발견되지 않았고 모든 개체에서 저항성 유전형질을 가지는 것으로 조사되었다. 김포에서는 6.7%의 동형 감수성 유전형질과 93.3%의 이형 또는 동형 저항성 유전형질을 나타내었고 강화의 경우는 5.7%의 동형 감수성 유전형질과 94.3%의 이형 또는 동형 저항성 유전형질이 조사되었다. 본 연구 결과를 통해서 우리나라 말라리아 위험지역인 파주, 김포, 강화에서의 말라리아 주요매개 모기인 An. sinensis의 피레스로이드계 살충제 저항성은 이전 조사에서보다 매우 증가한 것으로 나타났다. 따라서 이 지역의 말라리아 매개모기 방제를 위해서는 피레스로이드계 살충제 저항성 관리가 시급한 것으로 사료된다.

• 한국작물학회지
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• 제28권4호
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• pp.473-480
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• 1983

육종자료를 얻기 이해 수집한 한국 재래종 옥수수 57계통에 대하여 주성분 분석법을 이용하여 계통분류를 행하고 분류된 계통군별로 주요특성에 대한 유전적 특성을 구명하고자 본 연구를 수행하였던 바 그 결과를 요약하면 다음과 같다. 1. 특성들의 평균치는 모든 특성에서 교배류형별로 차이가 있었는데 출수기까지의 일수를 제외한 모든 특성에서 자식된 계통의 것은 세력이 감소되었고 Top 교배된 계통의 것은 세력이 증대되었다. 2. 특성들의 자식열세 정도는 계통에 따라 차이가 있었으며 수량, 이삭중, 초장 등에서 비교적 크게 나타났고, 분류된 군별 자식열세 정도는 100립중, 엽수, 엽장, 출수기까지의 일수 등의 특성이 계통군 I에서 컸고 기타의 특성은 계통군 II에서 컸다. 3. 특성들의 잡종강세 정도는 계통간 차이가 있었으며 이삭중, 이삭립중, 수량, 100립중, 초장등에서 높았으며 분류된 군별로 보면 이삭길이, 이삭직경, 이삭중, 이삭당 립중, 100립중, 엽장 등의 특성은 계통군 II에서 높았고 기타의 특성은 계통군 I에서 높았다. 4. 특성들의 동질접합체 정도는 이삭중(79.1%)에서 가장 높았으며 이삭수(-2.1%)에서 가장 낮았는데 특성별로 큰 차이가 있었다. 분류된 군별에 있어서도 동질접합체 정도는 특성에 따라 차이가 있었는데 계통군 II에서 높은 것이 많았고 계통군 I에서는 낮은 것이 많았다. 5. 형매교배된 계통의 특성과 Top 교배된 계통의 특성과의 상관관계는 모든 특성에서 정의 상관을 나타내었으며 이삭수, 초장, 수량 등에서 높은 상관도를 보였으며 이삭직경, 100립중, 엽수 등에 따라서는 유의성이 인정되지 않았다.

• Molecules and Cells
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• 제24권3호
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• pp.409-415
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• 2007

The retinoblastoma (Rb) gene is one of the most important genes in cell cycle regulation and tumorigenesis. Homozygosity for a germ-line Rb mutation results in embryonic lethality and evokes developmental defects associated with inappropriate S-phase entry and high levels of apoptosis. Although Rb has been extensively studied, more target genes need to be identified and characterized to unravel the precise mechanism of Rb function. In order to identify Rb-regulated genes, we analyzed the gene expression profile of Rb-deficient mouse embryo fibroblasts (MEFs), and identified an unknown gene, RbEST47, that is transcriptionally upregulated in Rb-deficient MEFs. This gene is conserved from fruitfly to human. It is expressed in brain, lung, kidney, and testis, and is located on mouse chromosome 2. This region is syntenic to human chromosome 9q34.3, which frequently exhibits loss of heterozygosity in neoplastic diseases. RbEST47 was considerably down-regulated in immortalized cells, and showed cell cycle-dependent expression, suggesting important roles in S and/or G2.

• Parasites, Hosts and Diseases
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• 제56권2호
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• pp.175-181
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• 2018

The giant roundworm Ascaris infects pigs and people worldwide and causes serious diseases. The taxonomic relationship between Ascaris suum and Ascaris lumbricoides is still unclear. The purpose of the present study was to investigate the genetic diversity and population genetic structure of 258 Ascaris specimens from humans and pigs from 6 sympatric regions in Ascaris-endemic regions of China using existing simple sequence repeat data. The microsatellite markers showed a high level of allelic richness and genetic diversity in the samples. Each of the populations demonstrated excess homozygosity (Ho0). According to a genetic differentiation index (Fst=0.0593), there was a high-level of gene flow in the Ascaris populations. A hierarchical analysis on molecular variance revealed remarkably high levels of variation within the populations. Moreover, a population structure analysis indicated that Ascaris populations fell into 3 main genetic clusters, interpreted as A. suum, A. lumbricoides, and a hybrid of the species. We speculated that humans can be infected with A. lumbricoides, A. suum, and the hybrid, but pigs were mainly infected with A. suum. This study provided new information on the genetic diversity and population structure of Ascaris from human and pigs in China, which can be used for designing Ascaris control strategies. It can also be beneficial to understand the introgression of host affiliation.

• BMB Reports
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• 제29권1호
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• pp.45-51
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• 1996

Most expressed HLA loci exhibit a remarkable degree of allelic polymorphism, which derives from sequence differences predominantly localized to discrete hypervariable regions of the amino-terminal domain of the molecule. In this study, the HLA-DRB1 genotypes were determined in eighteen control cell lines and 112 unrelated Koreans using the PCR-SSP (Polymerase Chain Reaction-Sequence Specific Primer) technique. 29 specific primer pairs in assigning the DRB1 gene were used. The results of control cells correlated well with the data which was previously reported. The heterozygosity and homozygosity of the DRB1 gene were 0.786 and 0.214, respectively. In a total of 41 different DRB1 alleles and 83 genotypes, the most frequent allele and genotype were DRB1*04 and DRB1*0901/1501, respectively. This study shows that the PCR-SSP technique is relatively simple, fast and a practical tool for the determination of the HLA-DRBI genotypes. Moreover, these results-allele and genotype frequency and heterozygosity of the HLA DRB1 gene-could be useful for database study before being applied to individual identification and transplantation immunity.

• Asian Pacific Journal of Cancer Prevention
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• 제13권12호
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• pp.6263-6267
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• 2012

Background: Glutathione-S-transferase (GST) is an important phase II xenobiotic compound metabolizing enzyme family, involved in tolerance to a particular drug or susceptibility to a diseasec. This study focused the GSTM1 and T1 null allele frequency in the Gujarat population with a comparison across other Inter- and Intra-Indian ethnic groups to predict variation in the possible susceptible status. Methods: DNA was isolated by a salting out method and GSTM1 and T1 homozygous null genotypes were detected by multiplex polymerase chain reaction in 504 unrelated individuals. The genotype distribution of null alleles was compared with Indian and non Indian ethnics reported earlier in the literature using Fisher's test. Results: The frequencies of the homozygous null genotypes of GSTM1 and GSTT1 were 20% (95%CI 16.7-23.9) and 35.5% (95%CI 31.4-39.9) respectively. GSTM1 null frequency did not deviate from most other Indian ethnic groups but differed from the majority of those of non Indian ethnicity studied. The frequency of homozygous null type of GSTT1 was significantly higher and deviated from all Indian groups and a few of non Indian ethnicity. Conclusions: Gujarat ethnicity, possibly the most susceptible for GSTT1 dependent drug disposition and diseases regarding effects of pollution. Further, the results have implications for GSTT1 dependent drugs used for treatment, a serious problem which needs to be solved by physicians and clinical researchers.

• Asian Pacific Journal of Cancer Prevention
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• 제14권9호
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• pp.5449-5454
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• 2013

Background: A large variety of familiar and non-familiar lung carcinomas (LC) are caused by long term exposure to chemical carcinogens that are present in tobacco smoke. We aimed to investigate the prevalence of 5 thrombophilic germ-line mutations in patients with lung carcinomas. Materials and Methods:A total of 52 LC patients and 212 healthy controls from same population were analyzed for FV Leiden, factor V H1299R (R2), PAI-1, MTHFR C677T, MTHFR A1298C, ACE I/D, and Apo E genes and compared. Results: Overall, heterozygous and/or homozygous point mutations in FV Leiden Apo E2, PAI-1 and MTHFR C677T genes were associated with LC in the current cohort. There was no meaningful association between LC and ACE I/D gene markers. Conclusions: The current results showed that LC is related to combined thrombophilic gene mutations and individuals with homozygosity of 4G in PAI-1 and MTHFR C677T genes and heterozygosity of FV Leiden, Apo E4 genes have a germ-line risk for LC tumorigenesis.

• Journal of Plant Biotechnology
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• 제5권1호
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• pp.51-57
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• 2003

Doubled haploids have long been recognized as a valuable tool in plant breeding since it not only offers the quickest method of advancing heterozygous breeding lines to homozygosity, but also increased the selection efficiency over conventional procedures due to better discrimination between genotypes within any one generation. Salt tolerant mutants were obtained in rice the variety, 'Hawsungbyeo', through in vitro mutagenesis of in vitro cultured anther-derived calli. Various doses (30, 50, 70 and 90 Gy) of gamma ray were applied to investigate the effect of radiation on callus formation on medium containing 1% NaCl, green plant regeneration, frequency of selected doubled haploid mutants and of the salt tolerant screen. It was demonstrated that the dose of 30 and 50 Gy gamma rays had significant effects on callus formation, regeneration and selection of salt tolerance. No tolerant lines were obtained from non-mutagenized cultures. From gamma ray irradiated cultures, five tolerant lines ($M_2$generation) at germination stage and 13 tolerant lines ($M_3$genoration) at seedling stage were obtained. The frequency of salt tolerant mutants indicates that anther culture applied in connection with gamma rays is an effective way to improve salt tolerance.

• 대한수의학회지
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• 제47권4호
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• pp.457-460
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• 2007

The objective of the study was to establish routine parentage testing system in Beagle dogs using 22 ISAG (International Society for Animal Genetics) canine microsatellite markers (2005). Blood collections were obtained from a mother dog, 4 candidate father dogs and 3 offspring (n = 8). Genomic DNA samples were extracted from 8 Beagle dogs blood for PCR analysis. PCR products for the allele were analyzed by ABI 3130 DNA Sequencer and GeneScan (Ver 3.0) analysis and Genotyper (Ver. 2.1) software. The genetic relationship of mother and 3 offspring as well as one father dog among 4 candidate father dogs was confirmed by microsatellite allele analysis. The results of locus for amelogenin, which was designed for sexing, were matching with real gender among 8 Beagle dogs (female; 217/217 homozygosity, male; 179/217 heterozygosity). Twenty two ISAG microsatellite markers are useful the parentage test of Beagle dogs. In addition, amelogenin is an applicable marker to detecting real sex in dogs.

• Genomics & Informatics
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• 제20권2호
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• pp.24.1-24.8
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• 2022

Hypomyelinating leukodystrophy type 2 (HLD2), is an inherited genetic disease of the central nervous system caused by recessive mutations in the gap junction protein gamma 2 (GJC2/GJA12). HLD2 is characterized by nystagmus, developmental delay, motor impairments, ataxia, severe speech problem, and hypomyelination in the brain. The GJC2 sequence encodes connexin 47 protein (Cx47). Connexins are a group of membrane proteins that oligomerize to construct gap junctions protein. In the present study, a novel missense mutation gene c.760G>A (p.Val254Met) was identified in a patient with HLD2 by performing whole exome sequencing. Following the discovery of the new mutation in the proband, we used Sanger sequencing to analyze his affected sibling and parents. Sanger sequencing verified homozygosity of the mutation in the proband and his affected sibling. The autosomal recessive inheritance pattern was confirmed since Sanger sequencing revealed both healthy parents were heterozygous for the mutation. PolyPhen2, SIFT, PROVEAN, and CADD were used to evaluate the function prediction scores of detected mutations. Cx47 is essential for oligodendrocyte function, including adequate myelination and myelin maintenance in humans. Novel mutation p.Val254Met is located in the second extracellular domain of Cx47, both extracellular loops are highly conserved and probably induce intramolecular disulfide interactions. This novel mutation in the Cx47 gene causes oligodendrocyte dysfunction and HLD2 disorder.