• Title/Summary/Keyword: Insertion/deletion polymorphism

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Genetic Diversity of Myanmar and Indonesia Native Chickens Together with Two Jungle Fowl Species by Using 102 Indels Polymorphisms

  • Maw, Aye Aye;Shimogiri, Takeshi;Riztyan, Riztyan;Kawabe, Kotaro;Kawamoto, Yasuhiro;Okamoto, Shin
    • Asian-Australasian Journal of Animal Sciences
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    • v.25 no.7
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    • pp.927-934
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    • 2012
  • The efficiency of insertion and/or deletion (indels) polymorphisms as genetic markers was evaluated by genotyping 102 indels loci in native chicken populations from Myanmar and Indonesia as well as Red jungle fowls and Green jungle fowls from Java Island. Out of the 102 indel markers, 97 were polymorphic. The average observed and expected heterozygosities were 0.206 to 0.268 and 0.229 to 0.284 in native chicken populations and 0.003 to 0.101 and 0.012 to 0.078 in jungle fowl populations. The coefficients of genetic differentiation (Gst) of the native chicken populations from Myanmar and Indonesia were 0.041 and 0.098 respectively. The genetic variability is higher among native chicken populations than jungle fowl populations. The high Gst value was found between native chicken populations and jungle fowl populations. Neighbor-joining tree using genetic distance revealed that the native chickens from two countries were genetically close to each other and remote from Red and Green jungle fowls of Java Island.

Correlation Between Angiotensin-Converting Enzyme(ACE) Inhibitor Induced Dry Cough and ACE Gene Insertion/Deletion(I/D) Polymorphism (안지오텐신 전환효소 억제제에 의한 건성 기침의 발생과 안지오텐신 전환효소 유전자 다형성과의 관계)

  • Kim, Je-Hyeong;Jeong, Hye-Cheol;Kim, Kyung-Kyu;Lee, Sung-Yong;Kwon, Young-Hwan;Lee, So-Ra;Lee, Sang-Youb;Lee, Sin-Hyung;Cha, Dae-Ryong;Cho, Jae-Youn;Shim, Jae-Jeong;Cho, Won-Yong;Kang, Kyung-Ho;Kim, Hyoung-Kyu;Yoo, Se-Hwa;In, Kwang-Ho
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.2
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    • pp.241-250
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    • 1999
  • Background: Persistent nonproductive cough is a major adverse effect encountered with ACE inhibitor treatment and the most frequent reason for withdrawal of the drug. The mechanism of cough was postulated to be associated with accumulation of bronchial irritants which are substrates of ACE. It has been speculated that occurrence of this adverse effect is genetically predetermined ; in particular, variants of the genes encoding ACE. To investigate this relationship, we determined ACE gene Insertion/Deletion polymorphism in subjects with and without a history of ACE inhibitor-induced cough. Methods: Among the 339 patients with ACE inhibitor treatment, subjects who developed cough that resolved when not taking medication were designated to cough group and other subjects who did not complain cough were designated to non-cough group. Clinical characteristics of the patients were collected by review of medical records. ACE genotypes were determined by PCR amplification of DNA from peripheral blood and agarose gel electrophoresis. Results: 37 patients complained of dry cough(cough group) and 302 patients did not complained of cough(non-cough group). The incidence of ACE inhibitor induced dry cough was 10.9%. There was a preponderance of females in the cough group (M : F=24.3% : 75.7%) compared to the non-cough group (M : F=49.7% : 50.3%, p=0.004). There was no significant difference in mean age, underlying diseases, and kinds and frequencies of ACE inhibitors and their mean dosage between the both groups. ACE genotypic frequencies were I/I : I/D : D/D=16.2% : 18.9% : 64.9% in the cough group and 18.9% : 18.2% : 62.9% in the non-cough group which showed no significant difference between the both groups(p=0.926). Allelic frequencies were I : D = 25.7% : 74.3% and 28.0% : 72.0% in the cough and non-cough group respectively and the difference was not significant(p = 0.676). Conclusion: The incidence of ACE inhibitor-induced cough are 10.9%, and women are more susceptible to ACE inhibitor-induced cough. ACE inhibitor-induced dry cough is not associated with ACE gene Insertion/Deletion polymorphism.

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The Relationship between ACE I/D Polymorphism and HDL Cholesterol (ACE 삽입 및 결손 유전자 다형성과 HDL 콜레스테롤과의 관련성)

  • You, Chang-Hun;Kwak, Jong-Young;Kim, Na-Young;Roh, Mee-Sook;Jung, Kap-Yeol;Lee, Yong-Hwan;Kim, Jung-Man;Kim, Joon-Youn;Hong, Young-Seoub
    • Journal of Preventive Medicine and Public Health
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    • v.39 no.6
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    • pp.505-510
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    • 2006
  • Objectives : The purpose of this study is to evaluate the association of the angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with cardiovascular disease risk factors. Methods : Out of a total of 608 middle-aged adults who visited local health centers, 424 subjects (104 male, 320 female) who had not been diagnosed with hypertension, diabetes mellitus, or hyperlipidemia were included in this study. ACE genotypes were determined in all subjects by polymerase chain reaction methods. Results : Statistical differences in high-density lipoprotein (HDL) cholesterol levels according to ACE genotype were observed using ANOVA (p<0.05), but no differences were found in other cardiovascular risk factors. Specifically, men with the DD and DI genotypes had significantly lower HDL cholesterol levels than those with the 11 genotype based on the LSD multi-comparison test (p<0.05). Conclusions : In men, the D-allele of the ACE I/D polymorphism was significantly associated with reduced HDL cholesterol levels. In the future, larger studies are needed to confirm this relationship between ACE I/D polymorphism and HDL cholesterol.

Lack of Influence of the ACE1 Gene I/D Polymorphism on the Formation and Growth of Benign Uterine Leiomyoma in Turkish Patients

  • Gultekin, Guldal Inal;Yilmaz, Seda Gulec;Kahraman, Ozlem Timirci;Atasoy, Hande;Dalan, A. Burak;Attar, Rukset;Buyukoren, Ahmet;Ucunoglu, Nazli;Isbir, Turgay
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.3
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    • pp.1123-1127
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    • 2015
  • Uterine leiomyomas (ULM), are benign tumors of the smooth muscle cells of the myometrium. They represent a common health problem and are estimated to be present in 30-70% of clinically reproductive women. Abnormal angiogenesis and vascular-related growth factors have been suggested to be associated with ULM growth. The angiotensin-I converting enzyme (ACE) is related with several tumors. The aim of this study was to identify possible correlation between ULM and the ACE I/D polymorphism, to evaluate whether the ACE I/D polymorphism could be a marker for early diagnosis and prognosis. ACE I/D was amplified with specific primer sets recognizing genomic DNA from ULM (n=72) and control (n=83) volunteers and amplicons were separated on agarose gels. The observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium ($x^2=2.162$, p=0.339). There was no association between allele frequencies and study groups ($x^2=0.623$; p=0.430 for ACE I allele, $x^2=0.995$; p=0.339 for ACE D allele). In addition, there were no significant differences between ACE I/D polymorphism genotype frequencies and ULM range in size and number ($X^2=1.760;$ p=0.415 for fibroid size, $X^2=0.342;$ p=0.843 for fibroid number). We conclude that the ACE gene I/D polymorphism is not related with the size or number of ULM fibroids in Turkish women. Thus it cannot be regarded as an early diagnostic parameter nor as a risk estimate for ULM predisposition.

Comparison of UCP2 Polymorphism and Dietary Habits in University Students (대학생의 UCP2 유전자 다형성과 식습관 비교연구)

  • Kim, Kyung-Hee;Park, Mi-Won
    • Journal of the Korean Society of Food Culture
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    • v.24 no.2
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    • pp.224-235
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    • 2009
  • This study aimed to research meal quality and the dietary behaviors of college students for desirable dietary lives and provides basic data for nutritional education by examining polymorphism distribution of the UCP2 gene according to gender, by investigating attitudes in terms of their dietary habits and dietary lives, and by analyzing serum lipid levels and body composition. A survey was conducted with a total of 222 students - 93 male and 129 females. Based on a selfreporting method, the questionnaires were answered over 20 minutes, and UCP2 insertion/deletion gene polymorphism and blood samples were also analyzed. The results showed that the male students and female students had average BMI of 22.50 and $20.73\;kg/m^2$, respectively. According to answers regarding their dietary lives, 51.4% of the students showed 'irregular eating' patterns, which is regarded as something to be corrected. In terms of eating regularity, 51.6% of the male students and 59.7% of the female students had irregular meal schedules. As the most important meal of a day, 64.0% of the students answered 'breakfast' but only 53.6% answered that they ate breakfast everyday. In addition, 39.8% of the male students and 50.4% of the female students ate between meals 'once a day'. When questioned if they were satisfied with their body shape, 17.8 and 45.2% of the male students answered they were 'satisfied' or needed to 'gain weight', respectively, whereas 17.8 and 77.5% of the female students answered they were 'satisfied' or needed to 'lose weight', respectively. The results of the UCP2 gene polymorphism analysis showed that 33.7% of the males belonged to the DI heterozygote group, 64.2% belonged to the DD homozygote group, and 2.1% belonged to the II homozygote group. For the female students, 63.4% belonged to the DI heterozygote group, 35.1% belonged to the DD homozygote group, and 1.5% belonged to the II homozygote group. According to the blood and serum lipid analyses, the male students showed average HDL-cholesterol, LDL-cholesterol, and hemoglobin levels of 57.20, 93.80, and 15.00 mg/dL, respectively, while the female students presented average levels of 56.69, 102.88, and 13.13 mg/dL, respectively. In conclusion, this study found no significant effects in terms of UCP2 gene polymorphisms, but it is suggested that practical plans must be designed that allow college students to use nutritional knowledge in their daily lives, and in particular, nutrition education needs to be develop that would enable female college students to recognize their bodies appropriately and to control their weight in desirable ways.

Genomic Analyses of Toll-like Receptor 4 and 7 Exons of Bos indicus from Temperate Sub-himalayan Region of India

  • Malik, Y.P.S.;Chakravarti, S.;Sharma, K.;Vaid, N.;Rajak, K.K.;Balamurugan, V.;Biswas, S.K.;Mondal, B.;Kataria, R.S.;Singh, R.K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.24 no.7
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    • pp.1019-1025
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    • 2011
  • Toll-like receptors (TLRs) play an important role in the recognition of invading pathogens and the modulation of innate immune responses in mammals. The TLR4 and TLR7 are well known to recognize the bacterial lipopolysaccharide (LPS) and single stranded (ssRNA) ligands, respectively and play important role in host defense against Gram-negative bacteria and ssRNA viruses. In the present study, coding exon fragments of these two TLRs were identified, cloned, sequenced and analyzed in terms of insertion-deletion polymorphism, within bovine TLRs 4 and 7, thereby facilitating future TLR signaling and association studies relevant to bovine innate immunity. Comparative sequence analysis of TLR 4 exons revealed that this gene is more variable, particularly the coding frame (E3P1), while other parts showed percent identity of 95.7% to 100% at nucleotide and amino acid level, respectivley with other Bos indicus and Bos taurus breeds from different parts of the world. In comparison to TLR4, sequence analysis of TLR7 showed more conservation among different B. indicus and B. taurus breeds, except single point mutation at 324 nucleotide position (AAA to AAM) altering a single amino acid at 108 position (K to X). Percent identity of TLR7 sequences (all 3 exons) was between 99.2% to 100% at nucleotide and amino acid level, when compared with available sequence database of B. indicus and B. taurus. Simple Modular Architecture Research Tool (SMART) analysis showed variations in the exon fragments located in the Leucine Rich Repeat (LRR) region, which is responsible for binding with the microbial associated molecular patterns and further, downstream signaling to initiate anti-microbial response. Considering importance of TLR polymorphism in terms of innate immunity, further research is warranted.

Induction of Somatic Embryos and RAPD Analysis in Regenerated Plantlets of Bupleurum falcatum L. (자호(紫胡)의 체세포배(體細胞胚) 형성(形成)과 재생(再生) 식물체(植物體)의 RAPD 분석(分析))

  • Park, Cheol-Ho;Yu, Chang-Yeon;Seo, Jeong-Sik;Kim, Ki-Sik;Ahn, Sang-Duek;Chang, Byoung-Ho
    • Korean Journal of Medicinal Crop Science
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    • v.3 no.1
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    • pp.50-55
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    • 1995
  • This study was conducted to determine the optimum conditions for induction and different somatic of somatic embryos as well as germination of encapsulated and stored somatic embryos. Somatic embryos was better formed in 1/2X MS medium than full - strength MS medium. 0.1 to 1.0mg/lBA and kinetin promoted shoot differentiation of somatic embryos. Higher concentration tend to inhibit differentiation. IAA affect positively both root and shoot growth. In vitro germination of somatic embryos encapsulated with 2% alginate matrix containing 1/2 MS nutrient medium and $AgNO_3$ 5mg/l was 86%. Storage of somatic embryos was effecive at $5^{\circ}C$ but the germination rate decreased with longer storage period. RAPD analyses with plants regenerated from the somatic embryos showed DNA polymorphism, indicating abolition of primer binding site by point mutation, deletion, or insertion of certain sequences.

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PCR-RFLP and Sequence Analysis of the rDNA ITS Region in the Fusarium spp.

  • Min, Byung-Re;Lee, Young-Mi;Choi, Yong-Keel
    • Journal of Microbiology
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    • v.38 no.2
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    • pp.66-73
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    • 2000
  • To investigate the genetic relationship among 12 species belonging to the Fusarium section Martiella, Dlaminia, Gibbosum, Arthrosporiella, Liseola and Elegans, the internal transcribed spacer(ITS) regions of ribosomal DNA (rDNA) were amplified with primer pITS1 and pITS4 using the polymerase chain reaction(PCR). After the amplified products were digested with 7 restriction enzymes, restriction fragment length polymorphism (RFLP) patterns were analyzed. The partial nucleotide sequences of the ITS region were determined and compared. Little variation was observed in the size of the amplified product having sizes of 550bp or 570bp. Based on the RFLP analysis, the 12 species studied were divided into 5 RFLP types. In particular, strains belonging to the section Martiella were separated into three RFLP types. Interestingly, the RFLP type of F. solani f. sp. piperis was identical with that of isolates belonging to the section Elegans. In the dendrogram derived from RFLP analysis of the ITS region, the Fusarium spp. examined were divided into two major groups. In general, section Martiella excluding F. solani f. sp. piperis showed relatively low similarity with the other section. The dendrogram based on the sequencing analysis of the ITS2 region also gave the same results as that of the RFLP analysis. As expected, 5.8S, a coding region, was highly conserved, whereas the ITS2 region was more variable and informative. The difference in the ITS2 region between the length of F. solani and its formae speciales excluding F. solani f. sp. piperis and that of other species was caused by the insertion/deletion of nucleotides in positions 143-148 and 179-192.

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Development of Sequence-Based DNA Markers for Evaluation of Phylogenetic Relationships in Korean Watermelon Varieties

  • Lee, Hee-Jeong;Cho, Hwa-Jin;Lee, Kyung-Ah;Lee, Min-Seon;Shin, Yoon-Seob;Harn, Chee-Hark;Yang, Seung-Gyun;Nahm, Seok-Hyeon
    • Journal of Crop Science and Biotechnology
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    • v.10 no.2
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    • pp.98-105
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    • 2007
  • Phylogenetic relationships in Korean watermelons were evaluated by genetic similarity coefficients using 15 SSR(simple sequence repeat), 14 SCAR(sequence characterized amplified region) and 14 CAPS(sequence characterized amplified region) markers. The SSR markers were selected from previously reported melon and watermelon SSRs through testing polymorphisms within a set of commercial $F_1$ varieties. The SCAR and CAPS markers were developed from polymorphic AFLP(amplified fragment length polymorphism) markers between inbred lines 'BN4001' and 'BN4002'. From the AFLP analysis, 105 polymorphic fragments were identified between the inbred lines using 1,440 primer combinations of EcoRI+CNNN and XbaI+ANNN. Based on the sequencing data of these polymorphic fragments, we synthesized sequence specific primer pairs and detected clear and reliable polymorphisms in 27 primer pairs by indels(insertion/deletion) or RFLP(restriction fragment length polymorphism). A total of 43 sequence-based PCR markers were obtained and polymorphic information content(PIC) was analyzed to measure the informativeness of each marker in watermelon varieties. The average PIC value of SCAR markers was 0.41, which was similar to that of SSR markers. Genetic diversity was also estimated by using these markers to assess the phylogenetic relationships among commercial varieties of watermelon. These markers differentiated 26 Korean watermelon varieties into two major phylogenetic groups, but this grouping was not significantly correlated with their morphological and physiological characteristics. The mean genetic similarity was 66% within the complete set of 26 commercial varieties. In addition, these sequence-based PCR markers were reliable and useful to identify cultivars and genotypes of watermelon.

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Complete Mitochondrial Genome Sequences of Korean Phytophthora infestans Isolates and Comparative Analysis of Mitochondrial Haplotypes

  • Seo, Jin-Hee;Choi, Jang-Gyu;Park, Hyun-Jin;Cho, Ji-Hong;Park, Young-Eun;Im, Ju-Sung;Hong, Su-Young;Cho, Kwang-Soo
    • The Plant Pathology Journal
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    • v.38 no.5
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    • pp.541-549
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    • 2022
  • Potato late blight caused by Phytophthora infestans is a destructive disease in Korea. To elucidate the genomic variation of the mitochondrial (mt) genome, we assembled its complete mt genome and compared its sequence among different haplotypes. The mt genome sequences of four Korean P. infestans isolates were revealed by Illumina HiSeq. The size of the circular mt genome of the four major genotypes, KR_1_A1, KR_2_A2, SIB-1, and US-11, was 39,872, 39,836, 39,872, and 39,840 bp, respectively. All genotypes contained the same 61 genes in the same order, comprising two RNA-encoding genes, 16 ribosomal genes, 25 transfer RNA, 17 genes encoding electron transport and ATP synthesis, 11 open reading frames of unknown function, and one protein import-related gene, tatC. The coding region comprised 91% of the genome, and GC content was 22.3%. The haplotypes were further analyzed based on sequence polymorphism at two hypervariable regions (HVRi), carrying a 2 kb insertion/deletion sequence, and HVRii, carrying 36 bp variable number tandem repeats (VNTRs). All four genotypes carried the 2 kb insertion/deletion sequence in HVRi, whereas HVRii had two VNTRs in KR_1_A1 and SIB-1 but three VNTRs in US-11 and KR_2_A2. Minimal spanning network and phylogenetic analysis based on 5,814 bp of mtDNA sequences from five loci, KR_1_A1 and SIB-1 were classified as IIa-6 haplotype, and isolates KR_1_A2 and US-11 as haplotypes IIa-5 and IIb-2, respectively. mtDNA sequences of KR_1_A1 and SIB-1 shared 100% sequence identity, and both were 99.9% similar to those of KR_2_A2 and US-11.