• Title/Summary/Keyword: 변이형

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Effects of KCNQ1 S140G Mutation in Human Ventricular Fibrillation Mechanism

  • Jeong, Da-Un;Im, Gi-Mu
    • Proceeding of EDISON Challenge
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    • 2017.03a
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    • pp.665-671
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    • 2017
  • Iks 칼륨 전류에 관여하는 KCNQ1유전자의 S140G 돌연변이는 심방세동에 영향을 미치는 대표적인 돌연변이 유전자로, 심방세동과 S140G 돌연변이의 상관관계를 밝히기 위한 연구들이 많이 진행되어 왔다. 하지만 S140G 돌연변이 유전자가 심방 세동 환자의 심실 반응에 영향을 미칠 수 있다는 선행연구를 비롯하여 심방과 심실의 활동전위에 영향을 미칠 수 있는 가능성이 있음에도 불구하고, KCNQ1 S140G 돌연변이 유전자의 심실세동에 대한 영향과 그 메커니즘에 대한 연구는 부족하다. 따라서 본 연구는 KCNQ1 S140G 돌연변이 유전자가 심실세동에 미치는 영향에 대한 컴퓨터 시뮬레이션 연구를 통해 그 상관관계를 밝히고자 하였다. 이를 위해 1차원 세포 모델을 비롯하여 2차원 심실세동 반응과 3차원 전기 생리학 및 기계적 수축 시뮬레이션을 진행하였다. 3차원의 전기생리학 및 기계적 수축 시뮬레이션에서는 심실의 박출 활동을 확인하기 위한 정상 박동 시뮬레이션과 심실 세동 발생시의 심실의 변화를 확인하기 위한 세동 시뮬레이션을 각각 진행하였다. 그 결과 KCNQ1 S140G 돌연변이로 인해 심실의 Iks가 증가되었으며, 그로 인해 심실의 활동 전위기간(APD)과 불응기(ERP)가 단축되는 것을 확인할 수 있었다. 또한 활동전위 지속 곡선(APDr)과 불응기 지속 곡선(ERPr)이 완만하게 나타났으며, 심근세포의 전도파장이 감소하였다. 3차원 정상 박동 시뮬레이션의 결과 표준형에서 보다 KCNQ1 S140G 돌연변이형에서 심실이 소모하는 ATP의 양과 박출계수가 감소하였다. 3차원 세동 시뮬레이션 결과 표준형에서는 심실세동이 종결되었으나, S140G 돌연변이 형에서는 심실세동이 종결되지않고 유지되었으며, 심실세동이 빠르게 발생하였다. 결론적으로, KCNQ1 S140G 돌연변이로 인해 증가된 심실의 Iks는 심실의 박출 효율을 감소시키고 심실세동을 발생시키고 유지시키며, 부정맥 발생의 위험성을 높일 수 있다.

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Chromosomal Variation among Brown Planthopper, Nilaparvata lugens (Stal), Biotypes in Korea (한국산 벼멸구 생태형의 염색체 변이)

  • ;R.C. Saxena;A.A. Barrion
    • Korean journal of applied entomology
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    • v.31 no.4
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    • pp.366-370
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    • 1992
  • Salient chromosomal variations during the first meiotic division in primary spermatocyLes of the three brown planthopper, Nilaparvata lugens (Stal) , biotypes were observed. The meiotic index was highest in biotype 3 (58.6), followed by biotype 1 (39.4) and biotype 2 (23.6). Total chromosomal aberration including agmatoploidy, aneuploidy, loose pairings of sex chromosomes, and cytoplasmic shrinkage was found high in the order of biotype 1 (60.6%),2 (47.9 %), and 3 (38.1 %). However, percent agmatoploidy was highest in biotype 2 (19.6%) whereas in biotypes 3 and 1, it was 9.5% and 2.5%, respectively. The number of cells with isolated sex chrosomomes was observed highest in biotype 2.

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Variation in the Pattern of Isoperoxidase Bands in the Four Parts of Lespedeza cyrtobotrya Miq. (참싸리 부위별(部位別) 과산화(過酸化) 동위효소형(同位酵素型)의 변이(變異))

  • Han, Young Chang
    • Journal of Korean Society of Forest Science
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    • v.30 no.1
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    • pp.42-49
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    • 1976
  • In order to study the variations of isoperoxidases of four parts of L. cyrtobotrya, leaves, secondary phloem, fibrous root, ovary were collected on september 29, 1975, respectively from 12 individuals which were planted in the compound of Institute of Forest Genetics, suwon, Korea. No variation of isoperoxidases appeared among the same parts which were collected from the same individual. There was a great variation in the pattern of isoperoxidase band among the 12 individuals in leaves, secondary phloem, fibrous root, and ovary. Regarding to the common occurrence band, the number was 7 in the leaves, secondary phloem, and fibrous root, while 35 bands were appeared in the ovary part. These was a great variation of occurrence band in four parts of Lespedeza. But the number of band in the parts of the Lespedeza was 4.50-5.16 on average, on the other hand there was no significant difference. No variation was observed in the activity of isoperoxidase in leaves. On the other hand, there was small varation in the secondary phloem, fibrous root and ovary.

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Mutagenic Test of Gardenia Yellow Pigment (치자 황색색소에 대한 변이원성 시험)

  • 김희구
    • The Korean Journal of Food And Nutrition
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    • v.11 no.1
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    • pp.72-76
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    • 1998
  • Gardenia yellow pigment produced by Gardenia jasminoides Ellis was tested for reverse mutagenic test in Salmonella typhimurium stains TA1535, TA1537, TA98 and TA100 at concentrations raging form 6.25 to 200$\mu\textrm{g}$/$m\ell$ per plate. No significant reverse mutagenic activity was observed in any of the S. typhimurium strains, in either presence or absence of S9 mix. There was no toxicity to the bacteria. These result indicate that yellow pigment doesn't have mutagenicity.

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Design of Jitter elimination controller for concealing interarrival packet delay variation in VoIP Network (VoIP 네트웍에서 패킷 전송지연시간 변이현상을 없애주는 적응식 변이 제어기 제안 및 성능분석)

  • 정윤찬;조한민
    • The Journal of Korean Institute of Communications and Information Sciences
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    • v.26 no.12C
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    • pp.199-207
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    • 2001
  • We propose an adaptive shaping controller equipped with the technologies of shaping and buffering VoIP packets arriving at the receiving end by the CAM-type controller. In order to conceal interarrival packet delay variation, the conventional jitter buffers force them to be too large, thereby causing the audio quality to suffer excessive delay. However, by using our proposed method, the delay caused by shaping operation dynamically increases or decreases on the level of jitter that exists with in the IP network. This makes the delay accommodates adaptively the network jitter condition. The less jitter network has the fewer delay the shaping controller requires for jitter elimination. And the CAM-type method generally makes the shaping operation faster and leads to processing packets in as little time as can. We analyse the packet loss and delay performance dependency on the average talk ratio and the number of jitter buffer entries in shaping controller. Surprising, we show that the average delay using our shaping controller is about 70msec. This performance is much better than with the delay equalization method which forces the receiving end to delay about 60msec.

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Morphological Variation and Characteristics of Native Medium-Leaf Type Zoysiagrasses (Zoysia spp.) by Site Environment (입지환경에 따른 자생 중엽형 한국잔디의 형태적 변이 및 특성)

  • Bae, Eun-Ji;Lee, Kwang-Soo;Han, Eun-Hui;Park, Yong-Bae;Lee, Sang-Myeong;Huh, Moo-Ryong
    • Weed & Turfgrass Science
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    • v.2 no.2
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    • pp.184-190
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    • 2013
  • It is important for genetic resources to collect and identify in native medium-leaf type zoysiagrasses species distributed in Korea. This study was conducted to investigate morphological variation and characteristics of native medium-leaf type zoysiagrasses from coastal, island and inland regions in Korea. Among them, 75 collected lines was confirmed to have various morphological variations, accessions were classified into 2 main based group coastal and inland regions by morphological characteristics and site environment. Group I included Z. sinica type, this group showed 3.7 mm in leaf width, 29 in number of seed per spikelet and 5.0 mm in seed length. Group II included Z. japonica type, this group showed 4.4 mm in leaf width, 42 in number of seed per spikelet and 3.5 mm in seed length. There is a need for additional research on growth characteristics and the molecular level for the introgressive hybridization between species which confirmed that cross-pollination is possible due to protogyny. The individuals showing variations should be preserved as valuable genetic resources for the expansion of variations in zoysiagrasses, and the results of this investigation on the genetic resources collected will be highly valuable in breeding high quality turfgrass.

Distribution of Strain Types and Function of P Transposable Element in Natural Populations of Drosophila melanogaster (초파리 자연집단의 P 전이인자에 대한 계통형 분포와 기능에 관한 연구)

  • 김지식;권도형추종길
    • The Korean Journal of Zoology
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    • v.38 no.2
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    • pp.177-185
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    • 1995
  • 두 지역에서 채집한 초파리 자연집단에 대하여 난소발생이상 실험에 의한 P 인자 활성과 세포질형을 분석하여 P 전이인자의 계통형을 조사하였다 전체 238 isofemale line을 조사한 결과 strong P와 true M은 존재하지 않았고, 0(weak P)와 M'(pseudo M) strain이 전체의 98.74%를 차지하여 가장 우세하게 분포하고 있었다. P$\pi$25.1 probe를 이용한 in situ hybridization을 행하여 P 전이인자의 copy수를 조사한 결과 평균 42.12개로 나타났으며, 0와 M'의 계통형 간에 유의적인 차이는 없었다 그러나 염색체 firm당 COPy수는 X염색체가 상염색체의 좌 우 각 arm보다 다소 높게 분포하고 있었고. 염색체상 P 전이인자의 삽입부위에 대한 특이적 좌위는 존재하지 않았다 P 전이인자의 분자구조에 대한 변이형을 조사하기 위하여 southern blot hybridization을 행한 결과 2.9kb의 완전한 크기의 분자를 포함하여 여러종류의 단편들이 확인되었다 조사한 모든 isofemale line에서 KP(1. 15kb)인자를 포함하고 있었으며 이들 KP인자가 P-M System의 난소발생이상을 표현하는데 있어 억제적 작용을 하는 것으로 판단되었다.

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Geographic Variation and Distribution of Nuptial Color Patterns in Korean Chub, Zacco koreanus (Cyprinidae, Pisces) (참갈겨니, Zacco koreanus (잉어과, 어강)의 혼인색의 지리적 변이와 분포)

  • Chae, Byung Soo;Yoon, Hee Nam
    • Korean Journal of Ichthyology
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    • v.18 no.2
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    • pp.97-106
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    • 2006
  • In the investigation of geographic variations on the Zacco koreanus distributed widely in southern Korean Peninsula, it was found that there were distinct differences in the nuptial coloration among geographic populations. These color variations were presence of red band on anterior margin of pectoral fin and color patterns of dorsal fin. On the basis of those color variations three color types were recognized in Z. koreanus, that is, HK, NS and NE types. HK types were distributed mainly in Han and Geum River, NS types in Nakdong and Seomjin River, and NE types in Nakdong River and small streams on the east coast. It was noted ecologically and taxonomically that these three types were well separated geographically and two types of them, i.e., NS and NE types cohabit in the Nakdong River and shown a tendency of microhabitat segregation between them.

Correlation Between Primary Tuberculous Pleurisy and NRAMP1 Genetic Polymorphism (결핵성 흉막염 환자에서 NRAMP1 유전자 다형성에 대한 연구)

  • Kim, Je-Hyeong;Kim, Byung-Gyu;Jung, Ki-Hwan;Park, Sang-Myun;Lee, Sang-Youb;Lee, Sin-Hyung;Sin, Cheol;Cho, Jae-Youn;Shim, Jae-Jeong;In, Kwang-Ho;Yoo, Se-Hwa;Kang, Kyung-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.48 no.2
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    • pp.155-165
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    • 2000
  • Background: The phagolysosomal function of alveolar macrophage against M. tuberculosis infection is influenced by Nramp1, which is encoded by the NRAMP1 gene. There are several genetic polymorphisms in NRAMP1, and these polymorphisms affect the innate host resistance through the defect in production and function of Nramp1. To investigate this relationship, the NRAMP1 genetic polymorphism in patients with primary tuberculous pleurisy was determined. Methods: Fifty-six primary tuberculous pleurisy patient, who were diagnosed by pleural biopsy, were designated to the pleurisy group and 45 healthy adults were designated to the healthy control group. Three genetic polymorphisms of NRAMP1, such as a single point mutation in intron 4(469+14G/C, INT4), a nonconservative single-base substitution at codon 543 that changes aspartic acid to asparagine(D543N) and a TGTG deletion in the 3' untranslated region(1729+55delI4, 3'UTR), were determined. Polymerase chain reaction(PCR) and polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) were used. Results: The frequencies of mutant genotypes of INT4 and 3'UTR were significantly high in pleurisy group(p=0.001, p=0.023). But the frequencies of D543N were not significantly different between the two groups(p=0.079). The odds ratios, which are a comparison with wild genotype for determining mutant genotypes, were 8. 022(95% confidence interval=2.422-26.572) for INT4 and 5.733(95% confidence interval = 1.137~28.916) for 3'UTR ; these were statistically significant But the ratio for D543N was not significant In the combined analysis of the INT4 and 3'UTR polymorphisms, the odds ratios were 6.000(95% confidence interval = 1.461~24.640) for GC/++ genotype and 14.000(95% confidence interval=1.610~121.754) for GC/+del when compared with GG/++ homozygotes ; these were statistically significant. Conclusion: Among the NRAMP1 genetic polymorphisms, a single point mutation in intron 4(469+14G/C, INT4) and a TGTG deletion in the 3' untranslated region(1729+55del4, 3'UTR) were closely related to the primary tuberculous pleurisy.

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