• Title/Summary/Keyword: 유전자 다형

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Association Study Between the C3123A Polymorphism of the Angiotensin II Type 2 Receptor Gene in the Human X Chromosome and Essential Hypertension in Koreans (한국인에서 Angiotensin II Type 2 Receptor 유전자에 존재하는 C3123A 다형선과 본태성 고혈압과의 관련성에 관한 연구)

  • Kang Byung Yong;Bae Joon Seol;Lee Kang Oh
    • Environmental Analysis Health and Toxicology
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    • v.20 no.1
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    • pp.39-45
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    • 2005
  • Renin-angiotensin system (RAS)은 혈압 조절에 중요한 역할을 수행하는 생리적 조절계로써, 이 system 을 구성하는 유전자들의 이상은 본태성 고혈압의 발병과 유의하게 관련된 것으로 알려졌다. RAS의 주요한 구성 성분인 angiotensin II는 2종류의 수용체인 angiotensin II type I receptor(AT₁R)와 angiotensin II type I receptor(AT₂R)에 의해 그 효과가 매개되기 때문에, 이 수용체를 암호하는 유전자는 본태성 고혈압의 유력한 후보 유전자라고 볼 수 있다. 현재가지의 연구에 의하면, AT₁R 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관해서는 많은 보고들이 있었지만, AT₂R 유전자에 존재하는 유전적 변이 가 본태성 고혈압에 유의한 효과를 나타내는 지에 관해서는 이렇다할 연구 성과가 별로 없는 실정이다. 이에 본 연구에서는 한국인 집단을 대상으로 하여, AT₂R 유전자에 존재하는 C3123A 다형성이 한국인 집단에서 본태성 고혈압과 유의한 관련성이 있는 지를 분석하였다. 이 유전자는 인간의 X 염색체에 존재하기 때문에, 여성인 경우에는 CC, CA및 AA로 이루어진 3유전자형이 존재하지만, 남성인 경우에는 C와 A로 이루어진 2종류의 대립 유전자로 구성되어 있기 때문에, 본 연구에서는 남성과 여성을 개별적으로 나누어서 분석하였다. 연구 결과, AT₂R 유전자에 존재하는 C3123A 다형성은 남녀 모두에서 본태성 고혈압과 유의한 관련성을 나타내지 않았다(P>0.05). 그렇지만, 이 다형성에 대한 대립 유전자 빈도를 서양인 집단과 비교했을 경우에는, 한국인을 대상으로 한 본 연구에서 A 대립 유전자 빈도가 0.33인 반면에 서양인 집단은 그 빈도가 0.43~0.48로 한국인 집단보다 높은 값을 나타내었다. 따라서, AT₂R 유전자에 존재하는 C3123A 다형성과 본태성 고혈압과의 관련성에 대해서는 한국인과 유전적 배경이 다른 서양인 집단을 대상으로 한 추시가 필요할 것으로 사료된다.

Mapping of RFLP Markers Linked to Bacterial Blight Resistant Genes (Xa-1, Xa-3) in Rice (벼 흰잎마름병 저항성 유전자(Xa-1, Xa-3)연관 RFLP 마커 탐색)

  • 강현중;김현순;남정권;이영태;이승엽;김석동
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.48 no.6
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    • pp.419-423
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    • 2003
  • Bacterial blight caused by Xantomonas oryzae pv. oryzae is one of the most serious diseases of rice especially in southern area of Korea. Three races, $\textrm{K}_1$, $\textrm{K}_2$ and $\textrm{K}_3$, are the most dominant species. lo improve rice breeding efficiency using marker assisted selection, some RFLP markers were surveyed for polymorphism between resistant and susceptible to $\textrm{K}_1$ and $\textrm{K}_3$. And, 127 doubled-haploid (DH) lines derived from Milyang121/HRl1650-1-4-2 and 131 DH lines derived from Milyang123/HR10624-AC5 were evaluated to bacterial blight ($\textrm{K}_1$ and $\textrm{K}_3$). Milyang121 and HR10624-AC5 have Xa-1, resistant to $\textrm{K}_1$ race, and Milyang123 has Xa-3, resistant to $\textrm{K}_1$ and $\textrm{K}_3$ race. Three markers, RZ590, RZ536 and RG303, showing polymorphism between parents and resistance gene, Xa-1 and Xa-3, were analysed in the two combinations of DH lines. The segregation pattern of resistant DH population of Milyang123/HR10624-AC5 to susceptible showed 3:1 and 1:1 in $\textrm{K}_1$ and $\textrm{K}_3$ race. In three RFLP markers, RZ590 was linked to Xa-1 on chromosome 4, and RZ536 and RG303 were linked to Xa-3 on chromosome 11. The map distance between Xa-1 and RZ590 was 3.1cM on chromosome 4, and Xa-3 and RZ536/RG303 were 7.6/16.0cM on chromosome 11, respectively. The results of RFLP mapping will be useful for the selection and pyramiding of bacterial blight resistant genes.

Relationships Between Bovine Growth Hormone Gene Polymorphism and Semen Characteristics in Hanwoo Bull (한우 종모우의 소 성장호르몬 유전자 다형과 정액성상과의 관계)

  • Lee, S.S.;Kim, J.H.;Jeong, J.;Park, N.H.
    • Journal of Animal Science and Technology
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    • v.44 no.6
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    • pp.693-700
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    • 2002
  • The objects of this study were to estimate gene frequencies of the bovine growth hormone(bGH), and to investigate the relationship between the bGH polymorphism and semen characteristics in Hanwoo bull. One hundred nine heads of Hanwoo bulls were used to identify bGH genotypes by the PCR-RFLP, followed by digestion with Alu I restriction enzyme. The frequencies of leucine(Leu) and Valine(Val) alleles were 0.88 and 0.12, respectively. Observed number of LL, LV and VV genotypes were 83, 25 and 1, respectively. Semen characteristics(semen volume, sperm concentration) were analyzed by GH genotypes in 25,559 ejaculates of 109 heads. Although bGH genotypes showed no significant effects on semen characteristics, those of bulls with VV genotype were tended to be lower than those of other bulls with LL or LV genotypes. And, in 1998, total sperm number(60.47${\times}$$10^8$) of VV bulls were significantly lower(P<0.05) than those(86.21${\sim}$92.22${\times}$$10^8$) of other genotypes bulls. This results provide that the VV bull in bGH locus may be worse, under the LL and LV bulls on semen characteristics. However, the number of examined VV bulls was only one and further investigations are needed to confirm the results.

Detection of Silent Allele at Esterase(Es) Locus in Jeju Native Horse (제주마에서 Esterase(Es) locus의 silent allele 검출)

  • 조길재;조병욱;강한석;김용균
    • Journal of Life Science
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    • v.13 no.4
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    • pp.412-415
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    • 2003
  • The purpose of this present study was to investigate the polymorphism of esterase locus for individual identification and parentage verification in Jeju native horse (JNH). Seventy three random JNH samples were studied by polyacrylamide gel isoelectric focusing(IEF) at pH 3.5 ∼ 6.0. We detected international recognized alleles, F, G, H, I, M, and an silent allele $I^o$. Gene frequencies of allele I showed 0.479 the highest, while allele H and M($I^o$) with relatively low frequencies were 0.027 and 0.014, respectively.

XPC-PAT Polymorphism in Korean Thyroid Papillary Carcinoma (한국인 갑상선 유두상암종 환자에서 XPC-PAT 유전자 다형)

  • Tae, Kyung;Lee, Keun-Young;Kim, Hee-Ok;Lee, Yong-Seop;Lee, Hyung-Seok;Ahn, You-Hern
    • Korean Journal of Head & Neck Oncology
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    • v.22 no.2
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    • pp.117-122
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    • 2006
  • Background and Objectives : Thyroid carcinoma is the sixth commonest cancer in Korea and the papillary carcinoma is the most common type(88%) of the malignant thyroid tumors. Bulky DNA adducts formed by the carcinogens are repaired by DNA repair process, but failure to repair this DNA damage can cause mutations in oncogenes and tumor suppressor genes resulting in tumor formation. The xeroderma pigmentosum group C(XPC) gene is essential for this repair procedure and the XPC-PolyAT(PAT) polymorphisms may alter DNA repair capacity(DRC) and genetic susceptibility to cancer. Subjects and Methods : In a case-control study of 113 Korean patients with pathologically diagnosed thyroid papillary carcinoma and 65 control subjects, we investigated the association between the three XPC-PAT gene polymorphisms and thyroid papillary cancer susceptibility. Results : The frequency of the variant XPC-PAT allele was lower in the cases(0.349) than in the controls (0.423), but the difference was not significant(p=0.140). Using logistic regression adjusting for age and sex, risk for thyroid papillary cancer was not increased in the XPC-PAT-/+ and XPC-PAT+/+ compared to XPCPAT-/-(adjusted overall odds ratio[95% confidence intervals;95%CI]=0.52[0.26-1.03] and 0.62 [0.22-1.75], respectively; trend test, p=0.167). Conclusion : There are no relationship between the XPC-PAT polymorphism and the risk of thyroid papillary carcinoma in Korean population. Based on our results, XPC-PAT polymorphism do not modulate genetic susceptibility to thyroid papillary cancer.

Study on the Genetic Variation of the Mitochondrial DNA in the Beet Armyworm, Spodoptera exigua (H bner), Using PCR-RFLP (PCR-RFLP를 이용한 파방나방 (Spodoptera exigua(H bner)) 미토콘트리아 DNA의 유전변이 연구)

  • 김용균;이명렬;정충렬
    • Korean journal of applied entomology
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    • v.37 no.1
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    • pp.23-30
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    • 1998
  • Restriction fragment length polymorphism (RFLP) of a DNA has been a useful tool for analyzing genetic variation. This research was performed to establish an RFLP analytic method on the mitochondrial DNA (mtDNA) of the beet armyworm, Spodoptera exigua (Hiibner). To do this, total size of the mtDNA was measured and polymerase chain reaction (PCR) primers were selected. Its mitochondrial genome size was ca. 16kb. From a serial PCR test of 29 primers refered to the compilation of Simon et al. (1994), 22 primers were selected to amplify its mtDNA fragments. These primers resulted in short (300-700 bp) or long (1000-2000 bp) DNA products which represented a total or partial sequence of each of CO-I, CO-11, Cyt-B, ND-1, 12s rRNA, 16s rRNA, and some tRNAs. PCR-RFLP was performed in some variable mtDNA regions with 8 kinds of 4bp recognizing restriction enzymes. Different populations from Andong, Kyungsan, and Sunchun did not show any restriction site polymorphisms but had some length variation in certain regions of mtDNA.

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Isozymes and Karyotypes of Bufo Species (두꺼비 종류의 아이소자임과 염색체)

  • Yung J. Kim;Yang I, Sunwoo;Kang S. Rhee
    • The Korean Journal of Zoology
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    • v.19 no.3
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    • pp.123-138
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    • 1976
  • Isozymes and chromosomes of Bufo bufo and B. kangii were studied by starch gel electrohporesis and bone marrow air-drying method. Twently-three enzymes and nonenzymatic proteins in Bufo species collected in Korea provided a basis for the estimating the proportion of polymorphic loci in the genum. Of 23 loci controlling the proteins examined, 26% and 17$% were polymorphic in B. bufo and B. kangii, respectively. In B. bufo, 4 loci had 3 alleles and no loci had more than 2 alleles in B. kangii. Both species had same karyotypes with 22 chromosomes except one pair of chromosome which had sat-chromosomes in B. bufo karyotypes. The genetic similarity was approximately 0.5.

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Genetic Variation of Several Isoenzymes in Pinus densiflora for. multicaulis (반송(Pinus densiflora for. multicaulis)의 몇 가지 동위효소(同位酵素)의 유전변이(遺傳變異))

  • Hwang, Jae Woo;Lee, Seok Woo
    • Journal of Korean Society of Forest Science
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    • v.85 no.3
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    • pp.409-415
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    • 1996
  • Isozyme variations in 4 enzyme systems in Pinus densiflora for. multicaulis in 31 individual trees collected throughout the country were studied by starch gel electrophoresis using haploid megagametophyte tissue to compare with those of Pinus densiflora. A minimum of 7 loci were found to code for isozymes of the enzyme systems. No variation was found at locus GOT-A; at the remaining 6 variable loci(GDH-A, GOT-B, GOT-C, IDH-A, LAP-,A, LAP-B) and 2 to 4 alleles were identified. We could not find any marker alleles to distinguish Pinus densiflora for. multicaulis from Pinus densiflora at the isozymes studied here. Allele frequency distributions at each loci were almost all the same as those of P. densiflora. The percentage of polymorphic loci(99% level), the number of alleles per locus, the observed and expected heterozygosities were 85.7, 2.3, 0.165 and 0.186%, respectively. The level of genetic diversity in Pinus densiflora for. multicaulis seemed to be less than that of P. densiflora.

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