• Parasites, Hosts and Diseases
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• 제60권2호
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• pp.109-116
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• 2022

Drug resistance is an important problem hindering malaria elimination in tropical areas. Point mutations in Plasmodium falciparum dihydrofolate reductase (Pfdhfr) and dihydropteroate synthase (Pfdhps) genes confer resistance to antifolate drug, sulfadoxine-pyrimethamine (SP) while P. falciparum chloroquine-resistant transporter (Pfcrt) genes caused resistance to chloroquine (CQ). Decline in Pfdhfr/Pfdhps and Pfcrt mutations after withdrawal of SP and CQ has been reported. The aim of present study was to investigate the prevalence of Pfdhfr, Pfdhps, and Pfcrt mutation from 2 endemic areas of Thailand. All of 200 blood samples collected from western area (Thai-Myanmar) and southern area (Thai-Malaysian) contained multiple mutations in Pfdhfr and Pfdhps genes. The most prevalent haplotypes for Pfdhfr and Pfdhps were quadruple and double mutations, respectively. The quadruple and triple mutations of Pfdhfr and Pfdhps were common in western samples, whereas low frequency of triple and double mutations was found in southern samples, respectively. The Pfcrt 76T mutation was present in all samples examined. Malaria isolated from 2 different endemic regions of Thailand had high mutation rates in the Pfdhfr, Pfdhps, and Pfcrt genes. These findings highlighted the fixation of mutant alleles causing resistance of SP and CQ in this area. It is necessary to monitor the re-emergence of SP and CQ sensitive parasites in this area.

• Asian-Australasian Journal of Animal Sciences
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• 제24권9호
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• pp.1179-1183
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• 2011

The incidence of mutation in three loci of GDF9, BMP15 and BMP15-1B and their effects on litter sizes was evaluated in Baluchi sheep. Wild-type alleles were detected for BMP15 and BMP15-1B loci and all individuals were found to be as non-carriers for FecB and $FecX^G$ mutations but, a G to A nucleotide substitution was found in GDF9 locus. The frequency of $FecG^+$ (0.82) wild type allele was higher than the frequency of $FecG^l$ (0.18) mutant allele and the frequencies of $FecG^+/FecG^+$, $FecG^+/FecG^1$ and $FecG^1/FecG^1$ genotypes were 0.72, 0.20 and 0.08, respectively in GDF9 locus. The heterozygous ($FecG^+/FecG^1$) and homozygous ($FecG^+/FecG^+$) non-carrier ewes had 0.35 and 0.21 more lambs than the homozygous ($FecG^1/FecG^1$) carrier ewes, respectively (p<0.05). In addition to the finding of segregation of non-additive gene effect on litter size in the previous study in Baluchi sheep, these findings for the first time shows that the $FecG^1$ gene has a major effect on litter size in this breed.

• 한국균학회지
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• 제17권3호
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• pp.154-160
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• 1989

핵전이 기술을 이용하여 Aspergillus nidulans에서의 종내잡종들을 얻어내고 이들의 섬유질 분해효소계 활성 및 핵형분석을 통하여 이 방법에 의한 균주개량의 가능성을 조사하였다. A. nidulans 야생균주와 영양요구성 돌연변이주 FGSC 475로부터 추출한 핵을 FGSC 514의 원형질체에 각각 전이시킨 결과 4.8% 및 10.1%의 잡종형성율을 나타냄으로써, 0.6%의 융합빈도를 보인 원형질체 융합법보다 핵전이법이 잡종형성에 더 효과적임을 알 수 있었다. 또한 형성된 잡종들에서 cellulase및 xylanase system과 mannanase 중 일부분의 효소성분의 활성이 향상된 균주가 분리되어 이 방법에 의한 우수 섬유질분해 균주개발의 가능성을 확인할 수 있었으며, 형성된 잡종의 핵형은 이배체 또는 이수체로 분석되었다.

• 대한유전성대사질환학회지
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• 제4권1호
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• pp.5-12
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• 2004

Purpose Phenylketonuria is an inborn error of metabolism, which is inherited as an autosomal recessive trait. PKU is resulting from deficiency of phenylalanine hydroxylase. PAH gene spans about 90 kb on chromosome 12q and comprises 13 exons. In order to define the genetic basis of PKU and the frequencies and distribution of PAH mutations in the Korean population, we analyzed PAH gene in independent 80 patients with PKU. Methods All 13 exons including exon-intron boundaries and 2 kb of 5' upstream region of the PAH gene were analyzed by PCR-direct sequencing methods. Results PAH gene analysis revealed 39 different mutations including 10 novel mutations. The novel mutations consisted of 9 missense mutations (P69S, G103S, N207D, T278S, P281A, L293M, G332V, S391I and A447P) and a novel splice site variant (IVS10-3C>G). R243Q, IVS4-1G>A, and E6-96A>G were the most relevant mutations and they accounted in the whole for 38% of the mutant alleles identified in this study. We also observed that. $BH_4$ responsibility was. associated with genotype of R241C, R53H and R408Q. Conc1ustion Our present study with 80 participants extends the previous results to more comprehensive understanding of PAH allele distribution and frequency in Koreans. Although Korean mutation profile of PAH is similar to those of the nearest oriental populations (Japanese, Chinese, and Taiwanese), several different characteristic features are revealed. The characterization of the genotype-phenotype relationship was also performed. Our data would be very useful information for diagnosis, genetic counseling and planning of dietary and therapeutic strategies in Korean PAH patients.

• Clinical and Experimental Reproductive Medicine
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• 제50권4호
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• pp.253-261
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• 2023

Objective: Azoospermia (the total absence of sperm in the ejaculate) affects approximately 10% of infertile males. Despite diagnostic advances, azoospermia remains the most challenging issue associated with infertility treatment. Our study evaluated transition nuclear protein 2 (TNP2) and synaptonemal complex protein 3 (SYCP3) polymorphisms, azoospermia factor a (AZFa) microdeletion, and gene expression levels in 100 patients with azoospermia. Methods: We investigated a TNP2 single-nucleotide polymorphism through polymerase chain reaction (PCR) restriction fragment length polymorphism analysis using a particular endonuclease. An allele-specific PCR assay for SYCP3 was performed utilizing two forward primers and a common reverse primer in two PCR reactions. Based on the European Academy of Andrology guidelines, AZFa microdeletions were evaluated by multiplex PCR. TNP2, SYCP3, and the AZFa region main gene (DEAD-box helicase 3 and Y-linked [DDX3Y]) expression levels were assessed via quantitative PCR, and receiver operating characteristic curve analysis was used to determine the diagnostic capability of these genes. Results: The TNP2 genotyping and allelic frequency in infertile males did not differ significantly from fertile volunteers. In participants with azoospermia, the allelic frequency of the SYCP3 mutant allele (C allele) was significantly altered. Deletion of sY84 and sY86 was discovered in patients with azoospermia and oligozoospermia. Moreover, SYCP3 and DDX3Y showed decreased expression levels in the azoospermia group, and they exhibited potential as biomarkers for diagnosing azoospermia (area under the curve, 0.722 and 0.720, respectively). Conclusion: These results suggest that reduced SYCP3 and DDX3Y mRNA expression profiles in testicular tissue are associated with a higher likelihood of retrieving spermatozoa in individuals with azoospermia. The homozygous genotype TT of the SYCP3 polymorphism was significantly associated with azoospermia.

• 한국응용곤충학회지
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• 제36권4호
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• pp.299-310
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• 1997

돌연변이체인 or (orange body) 계통과 KNIH (Korea National Institute of Health) 계통의 바퀴(Blattella germanica (L.) (Orthoptera: Blattellidae)를 반자연적인 조건하에서 비디오와 컴퓨터 자료처리를 통하여 연속적으로 관찰하였다. 휴식처에 머무르거나, 먹고, 물 마시며, 다른 개체들과 교신하는 행동을 관찰 할 수 있는 사각형의 관찰상자 내에서 수컷 성충을 개체별로 4~5일 동안 연속적으로 관찰하였는데, 본 논문에서는 휴식처에 머무르는 시간과 방문 빈도를 분석하였다. 개체들 간의 변이가 상대적으로 컸지만 시험개체들은 휴식처에 전체 관찰시간의 47 -61%를 평균적으로 머무르는 것으로 나타났다. 판찰 개체가 휴식처에서 머무르는 시간은 모계에 따른 유의한 차이가 있었으나, 계통 사이에는 뚜렷하게 구분이 되지 않았다. 명암기의 차이는 두 계통 모두 관찰되었는데 휴식처에 머무르는 시간은 암기보다 명기에서 더 길었다. 휴식처 주변의 국소적 활동성을 나타내주는 방문빈도는 KNIH 계통보다 or 계통에서 상대적으로 높게 나타났는데, 모계와 계통간에 유의한 차이가 있었다. 방문빈도의 명암기 차이는 or 계통에서는 유의하게 나타났지만 KNIH 계통에서는 없었다. 개체들 간의 변이가 있었으나 동일한 모계 내에서 휴식처에 머무르는 시간이나 방문빈도가 유사하게 관찰되는 개체들이 있었다.

• Molecular & Cellular Toxicology
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• 제1권3호
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• pp.172-178
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• 2005

[ $21{\alpha}$ ]- and ${\beta}$-Methylmelianodiol were isolated as the inhibitor of IL-5 bioactivity from Poncirus tripoliata. To develope as an anti-septic drug, the genotoxicity of $21{\alpha}\;-and\;{\beta}-methylmelianodiol$ was subjected to high throughput toxicity screening (HTTS) because they revealed strong IL-5 inhibitory activity and limitation of quantity. Mouse lymphoma thymidine kinase ($tk^{+/-}$) gene assay (MOLY), single cell gel electrophoresis (Comet) assay in mammalian cells and Ames reverse mutation assay in bacterial system were used as simplified, inexpensive, short-term in vitro screening tests in our laboratory. These compounds are not mutagenic in S. typhimurium TA98 and TA100 strains both in the presence and absence of metabolic activation. Before performing the comet assay, $IC_{20}$ of $21{\alpha}-methylmelianodiol$ was determined the concentration of $25.51\;{\mu}g/mL\;and\;21.99\;{\mu}g/mL$ with and without S-9, respectively. Also $21{\beta}-methylmelianodiol$ was determined the concentration of $24.15\;{\mu}g/mL\;and\;\;22.46\;{\mu}g/mL$ with and without S-9, respectively. In the comet assay, DNA damage was not observed both $21{\alpha}-methylmelianodiol\;and\;21{\beta}-methylmelianodiol$ in mouse lymphoma cell line. Also, the mutant frequencies in the treated cultures were similar to the vehicle controls, and none of $21{\alpha}\;-and\;{\beta}-methylmelianodiol$ with and without S-9 doses induced a mutant frequency over. twice the background. It is suggests that $21{\alpha}\;-and\;{\beta}-methylmelianodiol$ are non-mutagenic in MOLY assay. The results of this battery of assays indicate that $21{\alpha}\;-and\;{\beta}-methylmelianodiol$ have no genotoxic potential in bacterial or mammalian cell systems. Therefore, we suggest that $21{\alpha}\;-and\;{\beta}-methylmelianodiol$, as the optimal candidates with both no genotoxic potential and IL-5 inhibitory effects must be chosen.

• 한국수산과학회지
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• 제20권1호
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• pp.57-62
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• 1987

온도감수성 대장균 M5248 균주에 있어서의 plasmid $pPL-\lambda$와 pAS1을 $30^{\circ}C$에서 형질전환 시킬 때의 조건을 조사한 바 배양시간에 있어서는 균주의 대수 증식기 중반인 2시간 30분 배양시, 즉 cell농도는 $4.5\times10^7\;cells/ml$이며 파장 590nm에서의 흡광도가 0.45 일 때 plasmid $pPL-\lambda$와 pAS1 모두 형질전환율은 $2.4\times10^6$과 $1.5\times10^{-6}$로서 가장 높았다. 그리 고 competent cell $200{\mu}l(9\times10^{-6}cell)$에 대하여 plasmid 농도가 $6.4{\mu}g/ml$ 형질전환율이 $4.4\times10^{-6}$로서 높게 나타났으며 이때 calcium chloride만으로 처리한 것 보다 calcium chloride와 thymidine을 혼합하여 처리했을 때 2배 정도 더 많은 transformant를 유도하였다. Ampicillin 내성유전자는 LB배지를 첨가하여 $30^{\circ}C$에서 2시간 동안 배양했을 때 그 형질이 표현되었다.

• 식물조직배양학회지
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• 제27권6호
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• pp.453-459
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• 2000

5-methyltryptophan (5MT) 저항성 벼의 3계통 (DTR1, DTR2, DTR3)을 돌연변이 처리된 M3세대의 종자로부터 선발하였다. Ml세대에서 엽록소 돌연변이의 빈도는 개화 2시간 후의 벼이삭에 EMS (0.2%) 처리된 실험구로부터 가장 많이 관찰되었다. 5MT저항성으로 선발된 3계통은 자식후대에 있어서도 저항성과 감수성의 비율이 3：1을 보여주었다. 또한 M4세대의 저항성 식물 중에서 자식후대의 5MT에 대한 저항성은 homozygote와 heterozygote 형태로 분리된것이 1 : 2의 비율로 관찰되었다. 이러한 저항성 돌연변이 식물은 5MT저항성 형질이 단일 우성 핵 유전자에 의해 지배된다는 것을 보여준 것이다. 또한 5MT저항성 형질은 세포수준에서도 관찰되었다. DTR1, DTR2의 homozygous 종자로부터 추출된 전 유리아미노산 함량은 야생형 식물에 비해 약 1.7배정도 높았으며, 특히 phenylalanine, Lysine의 함량이 각각 6.2, 3.2배로 증가하였다. 그러나 DTR3의 경우 야생형과 비교하여 유리 아미노산 함량의 증가는 보이지 않고 약간 감소하였다. 이러한 결과는 곡류작물의 아미노산 함량을 변화시키는 데 있어서 5MT저항성 식물체의 선발이 매우 효과적인 방법이라는 것을 보여주었다.

• 한국미생물·생명공학회지
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• 제11권3호
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• pp.175-180
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• 1983

Lysine의 analogue인 thialysine은 야생주 Candida utilis NCYC-359의 생육을 강력하게 저해했으며 0.1%에서는 18시간까지 9.5%에서는 24시간까지 본 효모의 유도기를 지연시켰다. thialyssine에 의한 야생주의 생육저해의 회복에 미치는 아미노산 및 비타민의 영향을 조사한 결과 glycine, mthionine, arginine, histidine 그리고 trypphan등은 어느정도 효과가 있었으며 비타민은 거의 효과가 없었다. 특히 최소배지에 L-lysine을 thialysine의 1/8량만 첨가해도 thialysine에 의한 생육저해는 거의 일어나지 많았다. NTC 1회 처리시 thialysine에 대한 내성을 나타내는 빈도를 보면 최소배지에 thialysine 0.1% 첨가시 그 빈도가 0.11%, 0.5%시 0.03%로 나타났으며 이 내성맥리주에 의한 lysine 생산능을 검토한 결과 최소배지에 첨가된 thialyslne의 농도와 lysine생산능과는 뚜렷한 관계가 성립되지 않았으며 NTC를 회복처리하여 균체외로 lysine을 다양 분필 하는(450$\mu\textrm{g}$/$m\ell$) thialysine 내성맥리주 Candida utilis TRN-4006을 최종적으로 분리선별하였다.