• Title/Summary/Keyword: Dinucleotide polymorphism

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Failure to Support Associations of Neurotrophin-3(NT-3) Gene Polymorphism in Korean Schizophrenic Patients

  • Lee, Yu-Sang;Han, Jin-Hee;Chung, Eun-Kee;Yang, Byung-Hwan;Kim, Hyeong-Seob;Lee, Jung-Sik;Joo, Yeon-Ho;Chai, Young-Gyu
    • Korean Journal of Biological Psychiatry
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    • v.4 no.2
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    • pp.234-236
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    • 1997
  • Though initial report from Japan showed positive association of schizophrenia with dinucleotide repeat polymorphism in the NT-3 gene, subsequent studies showed mixed results. Therefore we conducted a replication study with Korean schizophrenics and matched controls who share similar ethnic background with Japanese population. The frequency of allele of dinucleotide repeat at 147 base pairs in the NT-3 gene was slightly increased, however, failed to reach statistical significance(${\chi}^2$=1.884, df=1, p<0.170) between the two groups. These findings do not support an association of NT-3 gene polymorphism with schizophrenia in Korean sample.

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Two Dinucleotide Repeat Polymorphisms (AC/TG and GT/CA) in the 5' Upstream Region of the Mouse Tryptophan Hydroxylase Gene

  • Yim, Sung-Vin;Chi, Sung-Gil;Chung, Sung-Hyun;Lee, Hee-Jae;Kim, Mi-Ja;Park, Seung-Joon;Jung, Jee-Chang;Chung, Joo-Ho
    • The Korean Journal of Physiology and Pharmacology
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    • v.3 no.5
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    • pp.501-505
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    • 1999
  • Tryptophan hydroxylase (TPH), the rate-limiting enzyme in serotonin biosynthesis, is primarily expressed in serotonergic neurons of the raphe nuclei. Simple tandem repeat polymorphisms, typically one to four nucleotides long, are tandemly repeated several times and often characterized by many alleles. To identify the presence of polymorphic repeats, we sequenced the 5'-upstream region of the mouse TPH gene. For the detection of any allelic variants, polymerase chain reaction, nonisotopic single-strand conformation polymophism, and DNA sequencing analyses of the tandem repeat sequences were performed using genomic DNA extracted from 60 ICR mice. Two dinucleotide repeats, $5'-(AC/TG)_{22}-3'$ and $5'-(GT/CA)_{17}3',$ were identified at approximately - 5.7 kb and - 3.4 kb upstream from the transcriptional initiation site of the mouse TPH gene, respectively. Minor allelic variants, $5'-(AC/TG)_{21}-3'$ and $5'-(GT/CA)_{18}-3',$ were observed in heterozygous pairs from 3 of 60 and 1 of 60 ICR mice, respectively. The identification of these microsatellites in the mouse TPH promoter raises the possibility that identical and/or other polymorphic sequences might exist in the upstream region of the human TPH gene.

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An Association Study of a D6S274(6p23) Polymorphism on Chromosome 6 with Korean Schizophrenic Patients (한국인 정신분열증 환자와 6번 염색체 D6S274(6p23) 다형성의 연합)

  • Kim, Gil-Sook;Lee, Young-Ho;Yang, Byung-Hwan;Han, Jin-Hee;Kim, Leen;Oh, Dong-Yul;Kwak, Sang-Kon;Choi, Jae-Young;Yrm, Sang-Hwa
    • Korean Journal of Biological Psychiatry
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    • v.3 no.2
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    • pp.162-169
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    • 1996
  • An association study with korean schizophrenic patients(N=75) and normal controls(N=87) was performed to find the relationship between D6S274 polymorphism and schizophrenia using polymerase chain reaction. Nine different alleles of a dinucleotide polymorphism on D6S273 locus were observed in both group. When we compared the frequencies of alleles between schizophrenics and normal controls, there was no significant difference between two groups. To increase homogeneity of schizophrenic group, we divided schizophrenic group by clinical phenotypes such as DSM-IV diagnostic subtype, family history, negative and positive symptoms(PANSS), soft neurologic signs(NES-K). Then we compared the frequencies of alleles among subgroups of clinical phenotypes. there was only significant difference between two subgroups on soft neurologic signs(p<0.05). Although our findings fail to provide on evidence of association between schizophrenia and D6S274 locus, follow-up investigation of this locus may be needed in homogeneous subtypes of schizophrenia and schizophrenic pedigrees.

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Identification of Lettuce Germplasms and Commercial Cultivars Using SSR Markers Developed from EST (EST로부터 개발된 SSR 마커를 이용한 상추 유전자원 및 유통품종의 식별)

  • Hong, Jee-Hwa;Kwon, Yong-Sham;Choi, Keun-Jin;Mishra, Raghvendra Kumar;Kim, Doo Hwan
    • Horticultural Science & Technology
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    • v.31 no.6
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    • pp.772-781
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    • 2013
  • The objective of this study was to develop simple sequence repeat (SSR) markers from expressed sequence tags (EST) of lettuce (Lactuca sativa) and identify 9 germplasms from 3 wild species of lettuce and 61 commercial cultivars using the developed EST-SSR markers. A total of 81,330 lettuce ESTs from NCBI databases were used to search for SSR and 4,229 SSR loci were identified. The highest proportion (59.12%, 2500) was represented by trinucleotide, followed by dinucleotide (29.70%, 1256) and hexanucleotide (6.62%, 280) among SSR repeat motifs. Totally 474 EST-SSR primers were developed from EST and a random set of 267 primers was used to assess the genetic diversity among 9 germplasms and 61 cultivars. Out of 267 primers, 47 EST-SSR markers showed polymorphism between 7 cultivars. Twenty-six EST-SSR markers among 47 EST-SSR markers showed high polymorphism, reproducibility, and band clearance. The relationship between 26 markers genotypes and 70 accessions was analyzed. Totally 127 polymorphic amplified fragments were obtained by 26 EST-SSR markers and two to nine SSR alleles were detected for each locus with an average of 4.88 alleles per locus. Average polymorphism information content was 0.542, ranging from 0.269 to 0.768. Genetic distance of clusters ranged from 0.05 to 0.94 between 70 accessions and dendrogram at a similarity of 0.34 gave 7 main clusters. Analysis of genetic diversity revealed by these 26 EST-SSR markers showed that the 9 germplasms and 61 commercial cultivars were discriminated by marker genotypes. These newly developed EST-SSR markers will be useful for cultivar identification and distinctness, uniformity and stability test of lettuce.

Identification of New Microsatellite DNAs in the Chromosomal DNA of the Korean Cattle (Hanwoo)

  • Kim, J.W.;Hong, J.M.;Lee, Y.S.;Chae, S.H.;Choi, C.B.;Choi, I.H.;Yeo, J.S.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.10
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    • pp.1329-1333
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    • 2004
  • To isolate the microsatellites from the chromosomal DNA of the Korean cattle (Hanwoo) and to use those for the genetic selection, four bacteriophage genomic libraries containing the chromosomal DNA of six Hanwoo steers showing the differences in meat quality and quantity were used. Screening of the genomic libraries using $^{32}P-radiolabeled 5'-({CA})_{12}-3$nucleotide as a probe, resulted in isolation of about 3,000 positive candidate bacteriophage clones that contain $(CA)_n$-type dinucleotide microsatellites. After confirming the presence of microsatellite in each positive candidate clone by Southern blot analysis, the DNA fragments that include microsatellite and flanking sequences possessing less than 2 kb in size, were subcloned into plasmid vector. Results from the analysis of microsatellite length polymorphism, using twenty-two PCR primers designed from flanking region of each microsatellite DNA, demonstrated that 208 and 210 alleles of HW-YU-MS#3 were closely related to the economic traits such as marbling score, daily gain, backfat thickness and M. longissimus dorsi area in Hanwoo. Interestingly, HW-YU-MS#3 microsatellite was localized in bovine chromosome 17 on which QTLs related to regulation of the body fat content and muscle ypertrophy locus are previously known to exist. Taken together, the results from the present study suggest the possible use of the two alleles as a DNA marker related to economic trait to select the Hanwoo in the future.

Genetic and Expression Analysis of the SIRT1 Gene in Gastric Cancers

  • Zhang, Cao;Song, Jae-Hwi;Kang, Young-Whi;Yoon, Jung-Hwan;Nam, Suk-Woo;Lee, Jung-Young;Park, Won-Sang
    • Journal of Gastric Cancer
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    • v.10 no.3
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    • pp.91-98
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    • 2010
  • Purpose: Silent mating-type information regulation 2 homologue 1 (SIRT1) is a nicotinamide adenine dinucleotide-dependent deacetylase. SIRT1 plays an important role in the regulation of cell death/survival and stress response in mammals. The aim of this study was to investigate whether the SIRT1 gene is involved in the development or progression of gastric cancers. Materials and Methods: SIRT1 and p53 genes in 86 gastric cancers were examined for genetic alterations by PCR-single strand conformation polymorphism sequencing, as well as SIRT1 protein expression in 170 gastric cancers by immunohistochemistry. Results: In the genetic analysis, we found SIRT1 and p53 mutations in two and 12 cases, respectively. Two missense mutations, c.599 C>T (T200I) and c.1258 G>A (E420K), were detected in the SIRT1 gene coding region. The SIRT1 and p53 mutation were found in mutually exclusive gastric cancers. The immunohistochemistry revealed that SIRT1 overexpression was found in 95 (55.9%) of 170 gastric cancers. Altered SIRT1 expression was not statistically associated with clinicopathological parameters, including tumor differentiation, location, lymph node metastasis, or p53 expression. Two cases with an SIRT1 mutation showed increased SIRT1 expression. Conclusions: These results suggest that genetic alterations and overexpression of the SIRT1 gene may contribute to gastric cancer development.

Lack of the Association between Microsatellite Polymorphism in Toll-like Receptor 2 Gene and Development of COPD (Toll-like Receptor 2 유전자의 Microsatellite 유전자 다형성과 만성폐쇄성폐질환 발생과의 연관성 결여)

  • Lee, Hee Seok;Lee, Hye Won;Kim, Deog Kyeom;Ko, Dong Seok;Park, Gun Min;Hwang, Yong Il;Lee, Sang-Min;Yoo, Chul Gyu;Kim, Young Whan;Han, Sung Koo;Shim, Young-Soo;Yim, Jae-Joon
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.4
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    • pp.367-374
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    • 2005
  • Background : The fact that only 10-20% of chronic cigarette smokers develop chronic obstructive pulmonary disease (COPD) reflects the presence of genetic factors associated with the susceptibility to COPD. Recently, it was reported that the surfactant protein A increases the secretion of matrix metalloprotease 9, which degrades extracellular matrices of the lung, through a Toll-like receptor 2 (TLR2). In this context, possible role of TLR2 in the pathogenesis of COPD was postulated, and a functional dinucleotide repeat polymorphism in intron II of TLR2 was evaluated for any association with COPD. Method : Male patients with COPD and male smokers with a normal pulmonary function were enrolled in this study. The number of Guanine-Thymine repeats in intron II of the TLR2 gene were counted. Because the distributions of the repeats were trimodal, the alleles were classified into three subclasses, 12-16 repeats: short (S) alleles; 17-22 repeats: medium length (M) alleles; and 23-27 repeats: long (L) alleles. Result : 125 male patients with COPD and 144 age- and gender-matched blood donors with a normal lung function were enrolled. There were no differences in the distribution of each allele subclass (S, M and L) between the COPD and control group (p=0.75). The frequencies of the genotypes with and without each allele subclass in the COPD and control group were similar. Conclusion : A microsatellite polymorphism in intron II of TLR2 gene was not associated with the development of COPD in Koreans.