• Title/Summary/Keyword: 대립유전자

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Polymorphisms of the Dopamine Receptor Genes in Alcoholism (알코올 중독에서의 도파민 수용체 유전자 다형성)

  • Ryu, Seung Ho
    • Korean Journal of Biological Psychiatry
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    • v.9 no.1
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    • pp.15-24
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    • 2002
  • Even though alcoholism is a multi-factorial psychiatric disorder, it is reasonable to suppose that genetic factors play a substantial role in the manifestation of this disorder. Because alcohol is the reinforcing substance which manifests its effects through activation of the mesolimbic dopaminergic reward pathway of the brain, the gene encoding dopamine receptor subtypes can be a major natural candidate gene. Since 1990, many association studies have identified strong evidence implicating the dopamine D2 receptor(DRD2) gene in alcoholism, specifically TaqI A minor(A1) allele. Association studies have also been conducted on other dopamine receptor(DRD3 & DRD4) polymorphisms but the results have yet to be confirmed. Through a number of other approaches, each dopamine receptor gene has been investigated in association with different phenotypes in alcoholism, but further researches will be needed. In conclusion, studies in the past decade have shown that the TaqI A1 allele of the DRD2 gene is associated with alcoholism in various subject groups. Other dopamine receptor genes have since been added to the list but yet to be identified. Thus, the knowledge of these genes and their functional significance will enhance the understanding of the underlying biological mechanisms of alcoholism. Furthermore, it could lead to more helpful prevention and treatment approaches to alcoholism.

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Genetic Diversity and Population Structure of Chimaphila japonica in Southern Part of Korea (한국 남부지역의 매화노루발의 유전적 다양성과 집단구조)

  • Joo-Soo Choi;Man-Kyu Huh
    • Journal of Life Science
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    • v.8 no.6
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    • pp.687-694
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    • 1998
  • Enzyme electrophoresis was used to estimate genetic diversity and population structure of Chimaphila japonica Miq. in Korea. The percent of polymorphic loci within the enzymes was 48.7%. Genetic diversity at the species level and at the population level was high (Hes=0.278 ; Hep=0.222, respectively), whereas the extent of the population divergence was relatively low ( $G_{ST}$ =0.079). $F_{IS}$ , a measure of the deviation from random mating within the 7 populations, was 0.355. An indirect estimate of the number of migrants per generation (Nm=2.61) indicates that gene flow is high among Korean populations of the species. In addition, analysis of fixation indices revealed a substantial heterozygosity deficiency in some populations and at some loci. Factors contributing to the high levels of genetic dive-rsity found in the entire species of C. japonica include wide distribution, long-lived perennials, ability to regenerate due to rhizomatous spread, outcrossing induced by animal vectors, and occasional pollen dispersal by wind.

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Allele Distribution and Frequency of Human Surfactant Protein-A1 in Korean Neonates (한국 신생아의 폐 표면 활성제 단백-A1 (Human Surfactant Protein-A1) 유전자 대립형질의 분포와 빈도)

  • Lee, Kyung Shin;Kim, Young Hee;Suk, Jung Su;Ko, Jung Ho;Yoo, Ook Joon;Lee, In Kyu;Oh, Myung Ho;Bae, Chong Woo
    • Clinical and Experimental Pediatrics
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    • v.45 no.12
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    • pp.1497-1502
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    • 2002
  • Purpose : We evaluated allele frequencies and distribution of surfactant protein A1(SP-A1) in Korean neonates in order to estimate prevalence of RDS to find out new SP-A alleles, and to establish new steroid therapy. Methods : Genomic DNA was extracted from 100 neonates and served as a template in PCR for genotype analysis. SP-A gene-specific amplications and gene-specific allele determinations were performed using PCR-RFLP methods. Results : The distribution for the alleles of the SP-A1 gene in the study population were 6A, $6A^2$, $6A^3$, $6A^4$, $6A^8$, $6A^9$, $6A^{10}$, $6A^{11}$, $6A^{12}$, $6A^{13}$, $6A^{14}$, $6A^{15}$, $6A^{16}$, $6A^{17}$, $6A^{18}$, $6A^{20}$. The specific frequencies for the alleles of the SP-A1 gene in the study population were : $6A^2=21%$, $6A^3=45%$, $6A^4=11%$, $6A^8=9%$, $6A^{14}=8%$. Conclusion : The frequency of $6A^3$ was higher than the other SP-A1 alleles in Korean neonates. This finding suggests that the prevalence of RDS in Korea may be low compared with other countries. However, this finding also suggests that Korean neonates have a high risk of infection.

Association between Interleukin-1α Polymorphism -889C/T and Sasang Constitution in Korean Obese Women (한국 비만 여성에서 인터루킨-1 알파 다형성 -889C/T와 사상체질과의 연관성)

  • Song, Jeong-Seop;Kwon, Young-Dal;Kim, Seon-Jong;Lee, Sang-Gyu;Yeom, Seung-Ryong;Song, Yong-Sun
    • Journal of Korean Medicine Rehabilitation
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    • v.15 no.1
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    • pp.67-75
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    • 2005
  • 목 적 : 면역 세포에서 주로 생성되는 사이토카인인 인터루킨-1 (interleukin-1)은 다양한 신경내분비계와 대사 기능에 영향을 미치며, 비만인의 말초혈액 단핵구에서 증가하는 경향이 있는 것으로 연구보고 되고 있다. 본 연구의 목적은 $IL-1{\alpha}$ 다형성과 사상체질이 비만과 관련이 있는지를 조사하는데 있다. 연구방법 : 본 연구에서는 현저한 체질량지수 (body mass index, BMI) 다양성을 보이는 건강한 한국 여성 182명을 대상으로 $IL-1{\alpha}$ 유전자형을 분석하였다. 결 과 : T 대립 유전자는 BMI 감소와 관련이 있었다. BMI $27-30kg/m^2$ 그룹(group III)에서 T 대립유전자의 빈도는 $25kg/m^2$ 미만의 그룹(group I)에 비하여 유의하게 감소하였다 (odds ratio, OR, 0.141; 0.25% CI, 0.04-0.54). 더욱이 태음인 여성에서 $IL-1{\alpha}$ T 대립유전자의 빈도가 normal group에 비하여 overweight group (BMI $27-29kg/m^2$)에서 명확하게 감소하였다 (OR, 0.139; 95% CI, 0.04-0.54). 결 론 : 본 연구에서 175명의 체질분석결과 $BMI{\geq}25$인 군들의 태음인의 빈도가 높았으며, BMI는 CC genotype를 가진 사람에서보다 CT+TT genotype를 가진 사람에게서 더 낮았다. 태음인에서 동형접합 또는 이형접합 T 대립유전자가 $BMI{\geq}25$인 군에서 유의하게 감소하였다. 이상의 결과는 한국 여성에서 $IL-1{\alpha}$ 유전자 조절부위에 위치한 -889C/T 다형성과 비만 및 사상체질의 관련되는 것을 의미한다.

Allelic Association of the Dopamine $D_2$ Receptor in Korean Alcoholics (한국인 알코올 중독 환자에서 도파민 $D_2$ 수용체의 대립유전자 연합)

  • Lee, Kang-Joon;Lee, Min-Soo;Kwak, Dong-Il
    • Korean Journal of Biological Psychiatry
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    • v.4 no.1
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    • pp.43-47
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    • 1997
  • The author attempted to examine the allelic association between the A1 allele of Dopamine $D_2$ receptor and alcoholism in Koreans. The allelic distribution of Taq I polymorphism of the $D_2$ dopamine receptor gene with alcoholism was examined in 67 Korean alcoholics and compared with 100 Korean controls. In alcoholics, the numbers of alcoholics with A1A1, A1A2 and A2A2 were 11(16.4%), 30(44.8%) and 26(38.8%) respectively and in controls with A1A1, A1A2 and A2A2 were 17(17.0%), 42(42.0%) and 41(41.0%), respectively. The prevalence of the A1 allele in alcoholics was 61.2% and 59.0% in controls. And the frequency of the A1 allele in alcoholics and controls were 0.39 and 0.38, respectively. There was not significant difference in the frequency of the A1 allele between alcoholics and controls. This data suggest that the A1 allele is not associated with alcoholism in Koreans. The author conclude that our data do not support an allelic association between the A1 allele at Dopamine $D_2$ receptor and alcoholism. Further systemized studies will be necessary to determine whether the role of allele of Dopamine $D_2$receptor is major effect gene or modifying effect gene in the pathogenesis of alcoholism.

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Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations (한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징)

  • Lee, You-Jin;Park, Soo-Byung
    • The korean journal of orthodontics
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    • v.34 no.6 s.107
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    • pp.537-543
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    • 2004
  • Microsatellit markers are considered to be very promising genetic markers for genetic linkage analysis. The majority of the markers are as informative as in Caucasians but there are significant ethnic differences in the genetic variations. In order to investigate the genetic variations in the Korean and Japanese populations and their ethnic differences, 51 microsatellite marker loci spanning the whole human chromosome 1 were arranged from a commercially available set (ABI PRISM Linkage Mapping Set-HD5, Applied Biosystems, Foster City, CA, USA), and then determined the allelic frequencies and heterozygosities for these marker loci in the 90 unrelated Korean subjects and 90 unrelated Japanese subjects. Of all 51 markers tested, significant differences were observed when microsatellite allele frequency pattern of Korean was compared with those of Caucasian, while this pattern was highly similar between Korean and Japanese populations. Our data indicate that an extensive verification of public microsatellite markers in a particular population study should be undertaken prior to their linkage studies. Moreover, this information should facilitate genetic linkage studies of various hereditary diseases, especially in the Koreans and Japanese.

Estimation of Genetic Characteristics and Cumulative Power of Discrimination in Korean Native Chicken and Korean Native Commercial Chicken (토종닭 순계와 실용계의 유전적 특성 및 품종식별력 분석)

  • Oh, Jae-Don;Lee, Kun-Woo;Seo, Ok-Suk;Cho, Byung-Wook;Jeon, Gwang-Joo;Lee, Hak-Kyo;Kong, Hong-Sik
    • Journal of Life Science
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    • v.20 no.7
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    • pp.1086-1092
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    • 2010
  • To estimate the genetic characteristics and cumulative power of discrimination (CPD) within Korean native commercial chicken, we used a total of 395 genomic DNAs from six breeds population (Korean Native Red chicken: R, Korean Native Yellow chicken: Y, Korean native Commercial Chicken: C, Ogal chicken: S, Hy-Line Brown: H, White Leghorn: W). Genetic diversity indices including mean allele number among loci, unbiased heterozygosity ($h_i$) within locus, effective number of alleles ($N_e$) and polymorphism information content (PIC) as well as the unbiased average heterozygosity (H) among loci in the populations were calculated using the generated allele frequencies by each marker. Frequencies of microsatellites markers were used to estimate heterozygosities and genetic distances. The nearest distance (0.119) was observed between the C and Y strains. The generated unbiased average heterozygosity among loci in each population was integrated to the global formula of CPD and the result demonstrated that the CPD within the six chicken populations was 99.461%.

Genetic Variation of Wild and Hatchery Populations of the Korean Ark Shell, Scapharca broughtonii Assessed by Microsatellite Markers (Microsatellite 마커를 이용한 한국산 피조개, Scapharca broughtonii Schrenck 집단의 유전적 다양성)

  • Jee, Young Ju;Kim, Woo Jin;Kim, Byung Hak;Byun, Soon Gyu;Cho, Kee Chae
    • The Korean Journal of Malacology
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    • v.28 no.3
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    • pp.269-274
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    • 2012
  • The genetic variation of Ark Shell, Scapharca broughtonii black was estimated using six polymorphic microsatellite (MS) loci in 443 individuals collected from five populations in Korea. The mean numbers of alleles per locus in five populations were 10-28. The mean number of alleles per locus in Jinhae Hatchery (JHH) population showed the least value as 15.5, but that in Gangjin (GJ) population showed the most value as 20.3. The mean expected heterozygosity in Saryangdo (SR) population showed the least value as 0.817, but that in Gangjin (GJ) population showed the most value as 0.831. In Jinhae hatchery(JHH) population, the mean expected heterozygosity was 0.822, there was no significant difference from those of wild population. The $F_{ST}$ values in Gangjin (GJ) population showed significant difference from those of the other populations, which revealed Gangjin (GJ) population is genetically different from the other populations. The $F_{ST}$ values among Jinhae Hatchery (JHH) population, Jinhae (JH) population and Saryangdo (SR) population showed lower values than the others, which implies there was a gene flow among these three populations. The $F_{ST}$ value and genetic distance between Jinhae (JH) population and Saryangdo (SR) population showed the least value as 0.0001 and 0.0386, indicating that these two populations were genetically the same.

Genetic Variability Comparison of Wild Populations and Cultured Stocks of Flounder Paralichthys olivaceus Based on Microsatellite DNA Markers (넙치, Paralichthys olivaceus 자연 집단과 양식 집단의 유전학적 다양성 비교)

  • Jeong, Dal Sang;Noh, Jae Koo;Myeong, Jeong In;Lee, Jeong Ho;Kim, Hyun Choul;Park, Chul Ji;Min, Byung Hwa;Ha, Dong Soo;Jeon, Chang Young
    • Korean Journal of Ichthyology
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    • v.21 no.4
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    • pp.221-226
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    • 2009
  • Six microsatellite DNA markers were used to investigate the genetic variability between wild populations and cultured stocks of olive flounder Paralichthys olivaceus. The average of observed (Ho) and expected heterozygosity (He) ranged from 0.722 to 0.959, and from 0.735 to 0.937, respectively. There was no distinguishable difference between the wild populations and cultured stocks in terms of the observed and expected heterozygosities. However, number of alleles per locus differed markedly between the two fish groups: 19.7 to 21.8 for the wild populations and 12.0 to 14.7 for the cultured stocks. This result gives important information concerning the production of seedling for the improvement of genetic diversity in this species.

Breeding System and Allozyme Genetic Diversity of Deutzia paniculata Nakai, an Endemic Shrub in Korea (고유종 꼬리말발도리의 생식특성과 동위효소 유전다양성)

  • Chang, Chin-Sung;Kim, Hui
    • Journal of Korean Society of Forest Science
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    • v.103 no.4
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    • pp.519-527
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    • 2014
  • Deutzia paniculata is an endemic species, which is geographically restricted within southern part of Korea. Four populations of D. paniculata were sampled across its natural range, from the smallest population, Mt. Dalum, which held less than 100 individuals, to the largest, Mt. Unmum, over 3,500 individuals. Artificial pollination study showed that D. paniculata had an obligate outcross breeding system. Major pollinators were two bee species, Lasioglossum exiliceps and Allograpta balteata (de Geer). The breeding system and patterns of allozyme variation of D. paniculata were investigated to understand the population biology and to explain on reserve designs and management proposals relevant to this species. D. paniculata held relatively low genetic variation at the eight allozyme loci surveyed. Measures of genetic variation in this species alleles per locus ($A_s=1.33$), proportion of polymorphic loci (P=23.85%), and expected heterozygosity ($H_{es}=0.110$) were similar to values reported for endemic species. Mt. Dalum population (DAL) was composed with one clone based on allozyme data. Individuals of D. paniculata were frequently included in root connected clusters. Population genetic structure between and within four populations was probably the result of shrinking effective population size and the extinctions of intervening populations. For the conservation of genetic diversity, maximum number of different genotype need to be protected based on genetic structure and mating system.