• Title/Summary/Keyword: population genetics

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Identification and Characterization of Polymorphic Microsatellite Loci using Next Generation Sequencing in Quercus variabilis (차세대 염기서열 분석을 이용한 굴참나무(Quercus variabilis)의 microsatellite 마커 개발 및 특성 분석)

  • Baek, Seung-Hoon;Lee, Jei-Wan;Hong, Kyung-Nak;Lee, Seok-Woo;Ahn, Ji-Young;Lee, Min-Woo
    • Journal of Korean Society of Forest Science
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    • v.105 no.2
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    • pp.186-192
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    • 2016
  • This study was conducted to develop microsatellite markers in Quercus variabilis using next generation sequencing. A total of 305,771 reads (384 bp on average) were generated on a Roche GS-FLX system, yielding 117 Mbp of sequences. The de novo assembly resulted in 7,346 contigs. A total of 606 contigs (20.75%) including 911 microsatellite loci were derived from the 2,921 contigs longer than 500 bp. A total of 180 primer sets were designed from the 911 microsatellite loci and screened in eight Q. variabilis individual trees sampled from a natural stand to obtain polymorphic loci. As a result, a total of thirteen polymorphic microsatellite loci were selected and used for estimating population genetic parameters in the 54 individual trees. The mean number of effective alleles was 4.996 ranging from 2.439 to 7.515. The observed heterozygosity and the expected heterozygosity ranged between 0.731 and 1.000 with an average of 0.873 and from 0.590 to 0.867 with an average of 0.766, respectively. Null alleles were not detected in all loci. No significant linkage disequilibrium was detected after Bonferroni correction in all loci. In the near future, these novel polymorphic microsatellite markers will be used to study population and conservation genetics of Q. variabilis of Korea in more detail.

Midtrimester Amniocentesis for Prenatal Diagnosis (산전 진단을 위한 임신 중기 양수 천자)

  • Kim, Sook-Ryung;Choi, Eun-Jung;Kim, Tae-Yoon;Kwon, Kyoung-Hun;Song, Nam-Hee;Oh, Sun-Kyung;Chi, Hee-Jun
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.125-130
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    • 2008
  • Propose: To analyze the indications and cytogenetic results of midtrimester amniocentesis. Material and Methods: This study reviewed 2,523 cases of midtrimester prenatal genetic amniocentesis performed at MizMedi Hospital between January 2000 and December 2007. Results: The most frequent indication for midtrimester amniocentesis was advanced maternal age (45.9%), followed by positive serum markers (29.9%). Chromosomal aberrations were diagnosed in 110 cases (4.4%), for which numerical aberration accounted for 38 cases (34.5%), structural aberration accounted for 65 cases (59.1%), and mosaicism accounted for 7 cases (6.4%). Among the autosomal aberrations, there were 20 cases of trisomy 21 and 8 cases of trisomy 18. With respect to structural aberrations, there were 14 cases of reciprocal translocation and 8 cases of robertsonian translocation. The frequencies of chromosomal aberrations according to the indication were highest in individuals with a family history of chromosome abnormality 14.0% (8/57) followed by previous congenital anomaly 5.9% (2/34). Conclusion: Midtrimester amniocentesis is an effective tool for prenatal diagnosis. Indications such as advanced maternal age, maternal serum markers, and ultrasound are important for predicting abnormal fetal karyotypes.

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Role of the Mdm2 SNIP 309 Polymorphism in Gastric Mucosal Morphologic Patterns of Patients with Helicobacter pylori Associated Gastritis

  • Tongtawee, Taweesak;Dechsukhum, Chavaboon;Leeanansaksiri, Wilairat;Kaewpitoon, Soraya;Kaewpitoon, Natthawut;Loyd, Ryan A;Matrakool, Likit;Panpimanmas, Sukij
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.3
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    • pp.1057-1060
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    • 2016
  • Background: The tumor suppressor p53 is as a regulator of cell proliferation, apoptosis and many other biological processes as well as external and internal stress responses. Mdm2 SNIP309 is a negative regulator of 53. Therefore, this study aimed to determine the role of the Mdm2 SNIP 309 polymorphism in the gastric mucosal morphological patterns in patients with Helicobacter pylori associated gastritis. Materials and Methods: A prospective cross-sectional study was carried out from November 2014 through November 2015. Biopsy specimens were obtained from patients and infection was proven by positive histology. Gastric mucosa specimens were sent to the Molecular Genetics Unit, Institute of Medicine, Suranaree University of Technology where they were tested by molecular methods to detect the patterns of Mdm2 SNIP 309 polymorphism using the real-time PCR hybridization probe method. The results were analyzed and correlated with gastric mucosal morphological patterns by using C-NBI endoscopy. Results: A total of 300 infected patients were enrolled and gastric mucosa specimens were collected. In this study the percentage of Mdm2 SNIP 309 T/T homozygous and Mdm2 SNIP309 G/T heterozygous was 78% and 19 % respectively whereas Mdm2 SNIP309 G/G homozygous was 3%. Mdm2 SNIP 309 T/T homozygous and Mdm2 SNIP309 G/T heterozygosity correlated with type 1 to type 3 gastric mucosal morphological patterns (P<0.01) whereas Mdm2 SNIP309 G/G homozygous correlated with type 4 and type 5 (P<0.01). Conclusions: Our study finds the frequency of Mdm2 SNIP309 G/G in a Thai population is very low, and suggests that this can explain ae Thailand enigma. Types 1 to type 3 are the most common gastric mucosal morphological patterns according to the unique genetic polymorphism of MDM2 SNIP 309 in the Thai population.

Interleukin-12 and Interleukin-6 Gene Polymorphisms and Risk of Bladder Cancer in the Iranian Population

  • Ebadi, Nader;Jahed, Marzieh;Mivehchi, Mohamad;Majidizadeh, Tayebeh;Asgary, Mojgan;Hosseini, Seyed Ali
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7869-7873
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    • 2014
  • Interleukin-12 (IL-12) as an antitumor and interleukin-6 (IL-6) as an inflammatory cytokine, are immunomodulatory products that play important roles in responses in cancers and inflammation. We tested the association between two polymorphisms of IL-12(1188A>C; rs3212227) and IL-6 (-174 C>G) and the risk of bladder cancer in 261 patients and 251 healthy individuals. We also investigated the possible association of these SNPs in patients with high-risk jobs and smoking habits with the incidence of bladder cancer. The genotype distributions of IL-6 (-174 C/G) genotype were similar between the cases and the control groups; however, among patients with smoking habits, the association between IL-6 gene polymorphism and incidence of bladder cancer was significant. After a control adjustment for age and sex, the following results were recorded: CC genotype (OR= 2.11, 95%CI=1.56-2.87, p=0.007), GC genotype (OR=2.18, 95%CI=1.16-4.12, p=0.014) and GC+CC (OR=2.6, 95%CI=1.43-4.47, p=0.011). A significant risk of bladder cancer was observed for the heterozygous genotype (AC) of IL-12 (OR=1.47, 95%CI=1.01-2.14, p=0.045) in all cases, and among smokers (AC) (OR=3.13, 95%CI=1.82-5.37, p=0.00014), combined AC+CC (OR=3.05, 95%CI=1.8-5.18, p=0.000015). Moreover among high risk job patients, there was more than a 3-fold increased risk of cancer in the carriers of IL-12 beta heterozygous (OR=3.7, 95%CI=2.04-6.57, p=0.000056) and combined AC+CC(OR=3.29, 95%CI=1.58-5.86, p=0.00002) genotypes as compared with the AA genotype with low-risk jobs. As a conclusion, this study suggests that IL-12(3'UTR A>C) and IL-6 (-174 C>G) genotypes are significantly associated with an increased risk of bladder cancer in the Iranian population with smoking habits and/or performing high-risk jobs.

Protein Tyrosine Phosphatase N1 Gene Variants Associated with Type 2 Diabetes Mellitus and Its Related Phenotypes in the Korean Population

  • Hong, Kyung-Won;Jin, Hyun-Seok;Lim, Ji-Eun;Ryu, Ha-Jung;Ahn, Youn-Jhin;Lee, Jong-Young;Han, Bok-Ghee;Shin, Hyoung-Doo;Cho, Nam-Han;Shin, Chol;Woo, Jeong-Taek;Park, Hun-Kuk;Oh, Berm-Seok
    • Genomics & Informatics
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    • v.6 no.3
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    • pp.99-109
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    • 2008
  • Protein phosphorylation at tyrosine residues is a key regulatory event that modulates insulin signal transduction. We studied the PTPN1 gene with regard to susceptibility to Korean type 2 diabetes mellitus (T2DM) and its related quantitative traits. A total of seven SNPs [g.36171G>A (rs941798), g.58166G>A (rs3787343), g.58208A>G (rs2909270), g.64840C>T (rs754118), g.69560C>G (rs6020612), g.69866G>A (rs718050), and g.69934T>G (rs3787343)] were selected based on frequency (>0.05), linkage disequilibrium (LD) status, and haplotype tagging status. We studied the seven SNPs in 483 unrelated patients with type 2 diabetes (age: $64{\pm}2.8$ years, onset age: $56{\pm}8.1$ years; 206 men, 277 women) and 1138 nondiabetic control subjects (age: $64{\pm}2.9$; 516 men, 622 women). The SNP rs941798 had protective effects against T2DM with an odds ratio of 0.726 (C.I. $0.541{\sim}0.975$) and p-value=0.034, but none of the remaining six SNPs was associated with T2DM. Also, rs941798 was associated with blood pressure, HDL cholesterol, insulin sensitivity. rs941798 also has been associated with T2DM in previous reports of Caucasian-American and Hispanic-American populations. This is the first report that shows an association between PTPN1 and T2DM in the Korean as well as Asian population.

Influence of Amount of Pedigree Information and Parental Misidentification of Progeny on Estimates of Genetic Parameters in Jeju Race Horses (제주마 집단의 혈연 정보량과 정보 오류가 유전 모수 추정치에 미치는 영향)

  • Kim, Nam-Young;Lee, Sung-Soo;Yang, Young-Hoon
    • Journal of Embryo Transfer
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    • v.29 no.3
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    • pp.289-296
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    • 2014
  • The pedigree information and race records of 1,000 m finishing time of Jeju race horses at KRA were used to study the effect of amount of pedigree information and parental misidentification on the estimates of genetic parameters. The modified data sets were made at the range of 2.5 to 25% parental misidentifications or loss of parental information of individuals with an increment of 2.5 percent. For each incremental level, 20 randomly replicated data sets were obtained and analyzed by single-trait analysis with a DF-REML(AI) algorithm. As the rate of misidentification increased or the amount of pedigree information decreased, the estimates of fraction of additive genetics variance component gradually decreased almost linearly (p<0.05), while the estimated fractions of error variance and permanent environmental variance components gradually increased for the finishing time. Regression coefficients of the percentage amount of both parents' information loss and incorrect pedigree information on additive genetic variances were -0.079 and -0.114, respectively (p<0.01). The estimate of heritability decreased by 0.92% for one percent loss of both parents' information and 1.39% for one percent increase of both parental misidentifications of progeny (p<0.01). For the consideration of probable incorrect and missing parent information of progeny in this early population of Jeju horses, the estimates of additive genetic parameters would be biased downward about ten percent. This results indicate that the amount of pedigree information loss and misidentification of progeny would severely affect estimates of genetic parameters and would reduce genetic gains for selection in Jeju horse population.

Genetic Diversity of Rehmannia glutinosa Genotypes Assessed by Molecular Markers (분자표지자에 의한 지황 유전집단의 유전적 다양성)

  • Bang, Kyong-Hwan;Chung, Jong-Wook;Kim, Young-Chang;Lee, Jei-Wan;Kim, Hong-Sig;Kim, Dong-Hwi
    • Journal of Life Science
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    • v.18 no.4
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    • pp.435-440
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    • 2008
  • Random amplified polymorphic DNA (RAPD) markers were used to identify the genetic diversities among and within varieties and landraces of Rehmannia glutinosa. Polymorphic and reproducible bands were produced by 10 primers out of total 20 primers used in the experiment. In RAPD analysis of the 11 genotypes, 64 fragments out of 73 amplified genomic DNA fragments were polymorphic which represented an average 6.4 polymorphic fragments per primer. Number of amplified fragments with random primers ranged from 2 (OPA-1) to 13 (OPA-11) and varied in size from 200 bp to 1,400 bp. Especially, OPA-10, OPA-11 and OPA-19 primers showed specific bands for varieties of Korea Jiwhang and Jiwhang il ho, which could be useful for discriminating from other varieties and landraces of R. glutinosa. Percentage polymorphism ranged from a minimum of 50% (OPA-1) to a maximum of 100% (OPA-11), with an average of 87.7%. Similarity coefficients were higher in the genotypes of Korea Jiwhang and Jiwhang il ho than in other populations. In cluster analysis, genotypes of Korea Jiwhang, Jiwhang il ho, and Japanese accession were separated from those of other varieties and landraces. Average of genetic diversity within the population $(H_S)$ was 0.110, while average of total genetic diversity $(H_T)$ was 0.229. Across all RAPD makers the $G_{ST}$ value was 0.517, indicating that about 52% of the total genetic variation could be explained by RAPDs differences while the remaining 48% might be attributable to differences among samples. Consequently, RAPD analysis was useful method to discriminate different populations such as domestic varieties and other landraces. The results of the present study will be used to understand the population and evolutionary genetics of R. gllutinosa.

Archaeogenetic Research of Excavated Human Bones from the Ancient Tombs (분묘 유적지 출토 인골에 대한 고고유전학 연구)

  • Jee, Sang Hyun;Chung, Yong Jae;Seo, Min Seok
    • Korean Journal of Heritage: History & Science
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    • v.41 no.1
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    • pp.99-108
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    • 2008
  • The paleogenetic analysis has become an increasingly important subject of archaeological, anthropological, biological as well as public interest. Recently, scientific research for human skeletal remains was more activated because of increasing awareness of the valuable archaeological information by the ancient DNA analysis. State of preservation of organic remains vary in different soil and burying environmental condition. Almost all available tissue disappear to analysis ancient DNA of bone in acidic soil caused by climate and geological features in Korea. Many preserved human remains excavated in the 'Heogwakmyo'(limelayered tomb of Chosun Dynasty Period) is able to explain through the relationship between burial conditions and bone survival form the burial method and ceremony. Ancient DNA analysis of excavated human bone form ancient tomb requires to remove contaminants such as microorganism's DNA and soil components that affect authentic results. Particularly, contamination control of contemporary human DNA is major serious problem and should verified by criteria of authenticity. In order to understand migration and culture of ancient population, when possible, ancient DNA studies needs to go abreast both radiocarbon and stable isotope studies because the dietary inferences will suggest ancient subsistence and settlement patterns. Also when the paleogenetic research supported with the arts and humanities research such as physical anthropology and archaeology, more valuable ancient genetic information is providing a unique results about evolutionary and population genetics studies to reconstruct the past.

The Variation of Natural Population of Pinus densiflora S. et Z. in Korea(I) -Characteristics of Needle and Wood of Chuwang-san, An-Myeon-do and Odae-san Populations- (소나무 천연집단(天然集團)의 변이(變異)에 관(關)한 연구(硏究)(I))

  • Yim, Kyong-Bin;Kim, Zin-Suh
    • Journal of Korean Society of Forest Science
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    • v.28 no.1
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    • pp.1-20
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    • 1975
  • F$\ddot{u}$r die Erforschllng der Variationen bei der Naturpopulationen der Pinus densifiora wurden drei Populationen aus Chuwangsan (Kyong-buk), Anmyondo (Chung-nam) und Odaesan (Kangwon) Ausgewiiblt. Bei je 20 Individuen jeder Population wurden die Variationen von der Eigenschaft der $\ddot{a}$usseren Gestalt, von der anatomischen und morphologischen Eigenschaft der Kiefernadel und von der Holzqualit$\ddot{a}$t an Bohrsp$\ddot{a}$nen untersucht. Das Ergebnis der Untersuchung konnte in den folgenden sechs Punkten formuliert werden. 1. Von den Eigenschaften der $\ddot{a}$usseren Gestalt ist die Geradheit des Baumstamms, der Durchmesser der Zweige und der Winkel der Verzweigung in der Odaesan Population wlinschenswerter als in anderen Populationen. 2. Es wird festgestellt, dass sich die drei Nadelmerkmale, Anzahl der Z$\ddot{a}$hne je 0.5 cm, Anzahl der Stomata-Reihen und Anzahl der Harzkan$\ddot{a}$le, sowohl zwischen den Populationen als auch zwischen den Individuen signignifikant unterscheiden. 3. Bei der Betrachtung des Harzkanal Index, der Schichtanzahl der Hypodermis und der Entfernung der Fibrovasalb$\ddot{u}$ndel wird aufgezeigt, dass sich alle drei gepr$\ddot{u}$ften Populationen geringf$\ddot{u}$gig von der normalen Kiefer unterscheiden. 4. Zwischen den Populationen ergibt sich ein Unterschied im Prozentanteil des Spatho lzes und im spezifischen Geswicht, jedoch zeigt die Breite der Jahresrings und die Tracheidenl$\ddot{a}$nge keinen Unterschied. Das spezifische Gewicht und die Tracheidenl$\ddot{a}$nge der Individuen jeder Population ist signifikant verschieden. 5. Bei dem Alter 11-20 ist der Prozentanteil des sp$\ddot{a}$tholzes am gr$\ddot{o}$ssten und wird aber danach immer geringer bis zum Alter 30; sp$\ddot{a}$ter zeigt sich dann keine sichtbare Ver$\ddot{a}$nderung mehr. Das spezifische Gewicht sich vergr$\ddot{o}$ssert bei der Zunahme des Jahresrings, nimmt aber dann in Anmyondo und Odaesan Populationen beim Alter 21-30 wieder ab. Die Tracheidenl$\ddot{a}$nge der drei Populationen besitzen die Neigung, sich nach der zunahme der Jahresringe zu vermehren. 6. Mit diesen hier behandelten Charakteren werden ganz allgemeinen die Unterschiede der drei Kiefer populationen festgestellt. Diese Ergebnisse sind sehr bemerkenswert betrachtet vom genetischen Gesichtspunkt der waldbaumpopulation.

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Comparison of B and Q biotype distribution, insecticidal mortality, and TYLCV viruliferous rate between Korean and Chinese local populations of Bemisia tabaci (한국과 중국 채집 담배가루이 지역계통의 B, Q biotype 분포 및 살충제 약제반응, 토마토황화잎말림바이러스 보독율 비교)

  • Jeong, In-Hong;Park, Bueyong;Lee, Gwan-Seok;Wu, Qiong;Li, Feifei;Zhang, Zhenxing;Zhu, Yongzhe
    • Korean Journal of Environmental Biology
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    • v.38 no.4
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    • pp.616-624
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    • 2020
  • International trade is one of the primary ways that non-native species spread worldwide. Korea and China are geographically close and have a large mutual trade volume. To investigate the population movement of the invasive whitefly(Bemisia tabaci Gennadius) between the two countries, we compared the biotype distribution, insecticidal response, and the TYLCV(tomato yellow leaf curl virus) viruliferous rate of local populations collected in 2019. Based on the mitochondrial DNA COI sequences of B. tabaci, only the Q biotype was found in all populations in Korea, whereas the B biotype (14.3%) and Q biotype (85.7%) were found in China. In the haplotype composition of the B. tabaci Q biotype, only the Q1 group[Q1H1(79.8%) and Q1H2(20.2%)] was observed in China, but the Q1 group [Q1H1(1.7%) and Q1H2(97.5%)] and the Q2 group(only one individual) were found in Korea. The Korean populations showed high mortality(more than 80%) from 15 commercial insecticides, but the Chinese populations showed significantly low mortality from eight insecticides. No TYLCV infections were observed in the Korean populations while the average TYLCV viruliferous rate was 21.4% in the Chinese populations. Taken together, the results suggest that the population structures of B. tabaci in the two countries are different and may have different immigration histories.