• Title/Summary/Keyword: Weinberg

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Exonic SNP (rs7144, 3’-UTR) in CD46 Molecule and Complement Regulatory Protein (CD46) Gene Associated with Excess Syndrome to Categorize Korean Bronchial Asthma Patients (한국인 기관지 천식 허증(虛證), 실증(實證) 환자와 CD46 유전자 다형성과의 관계)

  • Lee, Mei;Baek, Hyun-jung;Park, Eui-keun;Kim, Kwan-il;Lee, Beom-joon;Kim, Su-kang;Chung, Joo-ho;Kim, Jin-ju;Kim, Mi-a;Jung, Hee-jae;Jung, Sung-ki
    • The Journal of Internal Korean Medicine
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    • v.36 no.4
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    • pp.547-561
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    • 2015
  • Objectives In this study, we divided Korean asthma patients into excess syndrome or deficiency syndrome groups according to clinical phenotype. Genetic analysis was conducted to investigate the association of exonic SNPs in the CD46 gene polymorphism with the clinical phenotype based on the differentiation syndrome of the bronchial asthma patients.Methods There were 95 healthy patients (control group) and 53 asthma patients. (The deficiency syndrome group included 24 and the excess syndrome group 29). We searched the exonic areas of the CD46 gene in the NCBI website SNPs with <0.01 minor allele frequency (MAF) and <0.01 heterozygosity. We finally selected two SNPs: rs138843816, Ser13Phe and rs7144, 3’-UTR. Hardy-Weinberg equilibrium was calculated using SNPStats.Results There were significant differences in the codominant 1 model and the dominant model between the healthy group and the asthma group. There were significant differences between deficiency syndrome group and the excess syndrome group in the genotype frequencies and in the codominant 1 model, the dominant model, and the log-additive model. The allele frequency of rs7144C showed a significant difference between the deficiency syndrome group and the excess syndrome group. Two-SNP haplotype analysis showed a significant difference in frequency in the deficiency syndrome group and in the excess syndrome group. There were significant differences between the healthy group and the excess syndrome group in the codominant 1 model, the dominant model, and the log-additive model. The frequency of the rs7144 C allele exhibited a significant difference in the demonstration. SNP haplotype analysis between the healthy group and the excess syndrome group showed a significant difference in the frequency of the CT haplotype and the CC haplotype.Conclusions The results indicate that two CD46 SNPs (rs138843816, Ser13Phe and rs7144, 3′–UTR) might be associated with the symptomatic excess syndrome in Korean asthma patients.

Genetic Variation of Isozymes in Populations of Pinus densiflora and Pinus thunbergii Naturally Distributed in Kyungpook Province (경북지방(慶北地方) 소나무 및 곰솔집단(集團)의 동위효소(同位酵素)에 의한 유전변이(遺傳變異))

  • Son, Doo-Sik;Hong, Sung-Chun;Yeo, Jin-Kie;Ryu, Jang-Bal
    • Journal of Korean Society of Forest Science
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    • v.78 no.4
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    • pp.345-359
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    • 1989
  • This study was conducted to estimate genetic variation of Pinus densiflora in Kyungpook province which shows morphological variation between northern and southern types. Six isozymes sueh as IDH, ME, PGI, ADH, GOT and LAP was analyzed using megagametophyte tissue of seeds by electrophoresis and 16 populations of Pinus densiflora and 5 of Pinus thunbergii were tested. The results obtained were as follows ; 1. In P. densiflora, 13 Loci were found in 6 isozymes and 8 loci of them were polymorphic, having 24 alleles, while in Pinus thunbergii, there were 18 alleles detected from 6 loci among the same number of loci as in Pinus densiflora. 2. The genotypic frequency in Pinus densiflora vary slightly among populations for some isozymes, but most of them satisfied the law of Hardy-Weinherg equilibrium, while some populations such as Youngil for ADH and LAY, Youngyang for ADH and Bonghwa for LAY did not follow the law and showed high fixation index values and homozygosities higher than expected. 3. The variation among populations based on the genetic distance was small except populations of Youngju, Baegam, Gyungju and Sangju, however they could be clustered by three groups : northern Kyungpook group including Mt. Taebak, inland Kyungpook group represented by Sungju, Eusung and Kumleung population and coastal Kyungpook group represented by Baegam and Gyungju population. 4. No significant difference was found in 6 isozymes between northern and southern types of Pinus densiflora which was morphologically different. 5. The frequency of heterozygous loci per tree was higher in Pinus densiflora especially for ME-A and A DH-B, while that of homozygous loci was higher in Pinus thunbergii except for ADH-B, LAY-B and PGI-B locus.

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Genetic Variation of nSSR Markers in Natural Populations of Abies koreana and Abies nephrolepis in South Korea (남한지역 구상나무와 분비나무 집단에서의 nSSR 표지 유전 변이)

  • Hong, Yong-Pyo;Ahn, Ji-Young;Kim, Young-Mi;Yang, Byeong-Hoon;Song, Jeong-Ho
    • Journal of Korean Society of Forest Science
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    • v.100 no.4
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    • pp.577-584
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    • 2011
  • To estimate level of genetic variation and genetic differentiation among populations of 3 populations in Abies koreana and 5 populations in Abies nephrolepis, 5 nSSR markers were analyzed. Except 1 locus where too many alleles were observed excessively, population genetic parameters were recalculated with 4 loci. Mean expected heterozygosities ($H_e$) were 0.292 in A. koreana and 0.220 in A. nephrolepis, respectively. In both species, positive fixation coefficient was estimated (F=0.065 for A. koreana and F=0.095 for A. nephrolepis), which suggests that there is an excess of homozygotes relative to Hardy-Weinberg expectations within populations. Relatively high degree of population differentiation was observed in A. koreana ($F_{ST}=0.063$). compared to that of A. nephrolepis ($F_{ST}=0.039$). From 3-level Hierarchical estimation of F-staticstics, only 4.9% of the genetic variation was allocated between species ($F_{PT}$), which suggested that most of genetic variation was shared between two species. On the basis of results from analysis of genetic relationships among populations, 2 populations of A. koreana (Mt. Halla and Mt. Deogyu) were genetically distinct from the populations of A. nephrolepis but a population of Mt. Jiri was allocated within a group of populations of A. nephrolepis. Populations of both species seemed to have undergone genetic drift due to gradual decrease in population size induced by global warming after the last glacier, which resulted in increase of homozygotes by inbreeding. It could be also postulated that these species might be diverged recently and It is likely that the two species have not fully speciated yet.