• Title/Summary/Keyword: 변이분석

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Morphometric Analysis of Zostera marina L. Found in Various Habitats Along the Eastern Coast of Korea (동해안에 자생하는 거머리말(Zostera marina L.)의 생육지 분포에 따른 형태 분석)

  • 권천중;이상용;최청일
    • Korean Journal of Environmental Biology
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    • v.20 no.1
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    • pp.66-72
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    • 2002
  • The intraspecific variability, habitats, and morphological characteristics of eelgrass (Zostera marina L.) along the eastern coast of Korea were examined during June to August 1998. Morphological characteristics including shoot height, leaf length, leaf width, number of leaf veins, and shape of leaf apex were measured, and eelgrass habitats were analyzed using character correlation, principal components and cluster analyses. The morphological characteristics varied with the habitat types and water depth. Eelgrass beds distributed mostly in lagoons, ports and bays along the east coast of the Korean peninsula. The quantitative morphological features that enabled recognition of the two phonetic groups were short- narrow and long-broad leaf types. Leaf apex in particular varied with the habitat characteristics.

The Study of DNA Mutations of Phenylketonuria in Koreans (한국인에서의 페닐케톤뇨증의 유전자변이에 대한 고찰)

  • Yoo, Su-Jung;Hong, Yong-Hee;Lee, Yong-Wha;Jung, Sung-Chul;Ki, Chang-Seok;Lee, Dong-Hwan
    • Journal of Genetic Medicine
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    • v.5 no.1
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    • pp.26-33
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    • 2008
  • Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

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Distribution Pattern of cpSSR Variants in Korean Populations of Japanese Red Pine (국내 소나무 집단에 있어서 cpSSR 표지자 변이체의 분포양상)

  • Hong, Yong-Pyo;Kwon, Hae-Yun;Kim, Yong-Yul
    • Journal of Korean Society of Forest Science
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    • v.95 no.4
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    • pp.435-442
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    • 2006
  • A total of 167 peculiar haplotypes confirmed from 28 cpSR variants that were observed in 19 populations of Japanese red pine in Korea through cpSSR marker analysis. Thirteen individuals that showed identical haplotype dispersed evenly in 10 populations, and the average number of effective haplotype within population was 13.37. Estimate of genetic diversity (He) was 0.987 on the basis of cpSSR haplotype variants that was equivalent to or higher than the estimates reported in other studies on some forest tree species. Estimation of genetic diversity (S.I.) on the basis of cpSSR variants composing each haplotype revealed the highest estimate of 1.109 for the population of Gangwon-Yeongwol and the lowest estimate of 0.411 for the population of Gyeongbuk Mungyeong with the average of 0.887. Most of observed cpSSR variants appeared to exist commonly in 19 populations (97.62%), and genetic differentiation of cpSSR variants among populations was turned out to be weak (${\Phi}_{ST}=0.024$). Relatively fast rate of mutation of cpSSR marker might be a major cause for such weak population differentiation. There was no identical haplotype shared between 39 population pairs of 173 pair-wise population pairs. Estimation of genetic distance among 19 populations on the basis of population pairs was also impossible, that might be resulted from restricted migration among 19 populations. Considering the observed distribution patterns of cpSSR variants in addition to the previous studies on I-SSR variants, informations on the present geographic location and genetic status of populations should be considered together for effective sustainable management of the genetic resources of Japanese red pine in Korea.

Analysis of Gene Mutation and Expression Level of Follicle Stimulating Hormone Receptor in Premature Ovarian Failure(POE) Patients (조기 난소 부전증(Premature Ovarian Failure, POF) 환자에서 난포 자극 호르몬 수용체 유전자 변이 및 발현 양상에 대한 분석)

  • 김정욱;염혜원;이형송;송견지;천강우;박용석;김계현
    • Development and Reproduction
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    • v.4 no.1
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    • pp.61-66
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    • 2000
  • This study was investigated to analyze the inactivating point mutation and expression level of follicle-stimulating hormone(FSH) receptor mRNA. In first experiment, we analyzed the point mutation. Peripheral blood was collected from each patient. To screen individuals for the C566T mutation, PCR was performed for exon 7 of the FSH receptor gene in 10 patients. No inactivating point mutation of FSH receptor gene was identified in women with premature ovarian failure. To analyze the expression level of FSH receptor, mRNA expressions were examined by RT-PCR method using specific primers for the FSH receptor. The amount of FSH receptor mRNA expressed in POF patients was lower than that in the control group. But it was not significantly different. These finding suggests that lower expression of FSH receptor in premature ovarian failure patients might be the cause of the low response to the gonadotropin during the hyperstimulation in IVF-ET cycles.

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Genome-Wide Association Study between Copy Number Variation and Trans-Gene Expression by Protein-Protein Interaction-Network (단백질 상호작용 네트워크를 통한 유전체 단위반복변이와 트랜스유전자 발현과의 연관성 분석)

  • Park, Chi-Hyun;Ahn, Jae-Gyoon;Yoon, Young-Mi;Park, Sang-Hyun
    • The KIPS Transactions:PartD
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    • v.18D no.2
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    • pp.89-100
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    • 2011
  • The CNV (Copy Number Variation) which is one of the genetic structural variations in human genome is closely related with the function of gene. In particular, the genome-wide association studies for genetic diseased persons have been researched. However, there have been few studies which infer the genetic function of CNV with normal human. In this paper, we propose the analysis method to reveal the functional relationship between common CNV and genes without considering their genomic loci. To achieve that, we propose the data integration method for heterogeneity biological data and novel measurement which can calculate the correlation between common CNV and genes. To verify the significance of proposed method, we has experimented several verification tests with GO database. The result showed that the novel measurement had enough significance compared with random test and the proposed method could systematically produce the candidates of genetic function which have strong correlation with common CNV.

Genetic Variation in the Natural Populations of Abies holophylla Max. Based on RAPD Analysis (RAPD 분석(分析)에 의한 전나무 천연집단(天然集團)의 유전변이(遺傳變異))

  • Kim, In Sik;Hyun, Jung Oh
    • Journal of Korean Society of Forest Science
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    • v.88 no.3
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    • pp.408-418
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    • 1999
  • On the basin of RAPD analysis, genetic diversity and structure of the natural populations of Abies holophylla was estimated by AMOVA procedure. The average value of percent of polymorphic markers was 71.9%. Most variation existed among individuals within population(80.2%). Genetic differentiation among populations(${\Phi}_{ST}$) was 0.198. When the populations were grouped as two region(i.e., Taebaek and Sobaek Mountain Regions), 8.5% of the total genetic variation was explained as regional differences. The heterogeneity of molecular variance among populations was investigated with Bartlett's test, which revealed that populations of Mt. Taebaek and Mt. Gariwang were more heterogeneous. Generally, the populations of Taebaek Mountain Reion were more heterogeneous than those of Sobaek Mountain Reion. Finally, the applicability of AMOVA to the populations frenetic study was discussed in comparison with other measures of genetic differentiation which were widely used.

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A Study on The Regional Variation of Hypertension Medication Rate (고혈압 약물치료율의 지역 간 변이에 관한 연구)

  • Seok, Hyang-Sook;Kang, Sung-Hong
    • Journal of Digital Convergence
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    • v.11 no.9
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    • pp.255-265
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    • 2013
  • The purpose of this study was to identify the variation factors of hypertension medication rate between regions and to use them as a basic data for establishment of hypertension management business plan which is customized by region. The data were collected from community health survey, National Statistics Office and National Health Insurance Corporation, and were analyzed using the geographically weighted regression. As the result of analysis, the factors that influenced the hypertension medication rate between regions were subjective recognition rate of health level, the rate of medical aid client and the number of health facility per one hundred thousand of population. According to the geographically weighted regression, the total of 230 regional regression models composed of major variables which affected the hypertension medication rate were calculated. However, this study has several limitations that the explanatory power of model is not high and others. Therefore, a follow-up study which is based on the actual data of compliance with hypertension medication will be necessary.

Thermoanaerobacter ethanolicus Amylopullulanase Thermophilicity와 Thermostability의 Molecular Analysis

  • Park, Jong-Hyeon
    • Bulletin of Food Technology
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    • v.8 no.4
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    • pp.179-191
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    • 1995
  • Thermoanaerobacter ethanolicus유래 thermophilic amylopullulanase의 thermophilicity와 thermostability의 기작을 규명하기 위하여 N-말단과 C-말단으로부터 nested deletion mutatnt와 sitedirected mutagenesis등에 의한 변이효소를 제조, 분석하였다. 이러한 까다로운 변이효소를 제조하여 amylopullulanase의 특정부위가 효소의 thermophilicity와 thermostability에 관여하고 있는 것을 확인했다. N-말단의 start amino acid에서 194와 324 아미노산잔기에 이르는 부위 (TPR)가 이 효소의 높은 최적반응온도의 유지에 관련되어 있고 1102와 1224잔기에 이르는 부위 (TSR)는 thermodenaturation이 잘 일어나지 않도록 하고 있었다. 야생형 amylopullulanase (Apu), 변이효소중 ApuN342와 ApuN106/C379는 비슷한 효소비활성과 Km값을 가지고 있었다. TPR부위의 site-directed mutagenesis에 의한 변이효소중 P240A (proline$\rightarrow$alanine), P244A, P240A-P244A는 야생형의 최적반응온도 $80^{\circ}C$와 똑같았지만 효소의 열안전성(반감기)는 $85^{\circ}C$에서 21, 105, 128분을 보여 주었다. TSR에서의 변이효소중 P1159A, P1202A는 열안전성은 비슷하였지만 반응최적온도는 $85^{\circ}C$$90^{\circ}C$로 야생형 Apu보다 오히려 높아졌다. 따라서 proline은 분자내에서 thermophilicity와 thermostability를 항상 증가시키는 쪽으로 영향을 주지 않는 것으로 보인다. Proline은 그 위치와 주위의 다른 아미노산잔기와 같이 종합적으로 분자의 구조에 영향을 미치고 있는 것으로 판단된다.

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