• Title/Summary/Keyword: genetic test

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ASSOCIATION BETWEEN TOURETTE DISORDER AND CATECHOL-O-METHYL TRANSFERASE(COMT) GENE IN KOREAN SUBJECTS (한국인에 있어서의 뚜렛 장애와 COMT유전자간의 상관 관계에 대한 연구)

  • Kim, Boong-Nyun;Lim, Jae-In;Cho, Soo-Churl
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.15 no.2
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    • pp.178-184
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    • 2004
  • Objectives : This study was conducted to investigate the association of the COMT polymorphism with the TD in Korean sample of families with TD probands. The relationship between risk alleles and specific clinical features (tic severity, comorbidity, drug response) was also explored. Method : Patients were recruited from the Tic Disorder clinic at the Child & Adolescent Psychiatric Division of Seoul National University Hospital and assessed through 2 stage evaluation. Firstly, all the patients and parents received semistructured interview using Korean version of K-SADS-PL. Secondly all the patients received clinical interview and tic severity assessment with Korean version of YGTSS. The subjects in control group were recruited from the health promotion center in out hospital and were evaluated by SCL-90 and SCID-IV. Through these process, total of 42 children and adolescents with TD, their 84 parents and 86 control subjects were finally recruited. Genotyping for The Val158Met polymorphism of the COMT gene was done by standardized method. After collection of genetic data of all the patients, parents and control subjects, case-control comparison and tranmission dysequilibrium test was executed by SPSS version 11. Result : From the case-control comparison, the frequency of L-allele and LL genotype was significantly higher in TD group. However, no differences were found from the TDT. No significant differences were found in in family history of tic, ADHD, OCD, drug response and comorbid conditions among the three different genotypes in patients with TD. Conclusion : Though this study results should be interpreted cautiously due to small sample size and negative finding in TDT test, this study is the first report that there is positive association between the functional polymorphism of COMT gene the TD.

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Improvement of Selection Efficiency for Bacterial Blight Resistance Using SNP Marker in Rice (SNP 마커를 이용한 벼 흰잎마름병 저항성 선발 효율 증진)

  • Shin, Woon-Chul;Baek, So-Hyeon;Seo, Chun-Sun;Kang, Hyeon-Jung;Kim, Chung-Kon;Shin, Mun-Sik;Lee, Gang-Seob;Hahn, Jang-Ho;Kim, Hyun-Soon
    • Journal of Plant Biotechnology
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    • v.33 no.4
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    • pp.309-313
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    • 2006
  • Discovery of single nucleotide polymorphisms (SNPs), including small insertions and deletions, is one of the hot topics in genetic research. The most common type of sequence variant consists of single base differences or small insertions and deletions at specific nucleotide positions. Significance of SNPs in rice is increasing for genetic research, positional cloning and molecular breeding. $F_2$ 170 lines and $F_3$ 194 lines derived from Sangjuchalbyeo/HR13721-53-3-1-3-3-2-2 Were used for Searching SNP markers related to bacterial blight resistance. Sangjuchalbyeo is susceptible to bacterial blight, but HR13721-53-3-1-3-3-2-2 has Xa1 gene resistant to bacterial blight. Individual lines were inoculated with $K_1$ race of bacterial blight and resistant or susceptible was evaluated after 3 weeks from inoculation. The genotypes of population were analysed by PCR-RFLP for SNP marker developing. The segregation of $F_2\;and\;F_3$ population showed almost 3:1, 1:1 ratio, respectively. Analysis of genotype using SNP marker is capable of confirming resistance for $K_1$ race and genotype through amplifying the gene using 16PFXal primer and digested the PCR product with Eco RV. There were close relation between resistance test for $K_1$ race and SNP marker genotype. Especially, DNA analysis using SNP marker is capable of judging homozygote/heterozygote in $F_2$ population compared with resistant test for Kl race. So, it seems to improve the selection efficiency in disease resistant breeding.

Physiological and Genetic Changes by Mixing Culture of Shiitake (표고 배양시 균주 혼입에 따른 생리 및 유전적 변화)

  • Lee, Bong-Hun;Bak, Won-Chull;Kim, Myung-Kil;Ryu, Sun-Hwa;Ryu, Sung-Ryul
    • The Korean Journal of Mycology
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    • v.34 no.2
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    • pp.73-78
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    • 2006
  • Attempts were made to investigate the physiological and genetic changes when two different shiitake (Lentinula edodes) strains are mixed. Mycelial growth of KFRI 180 strain and KFRI 1 strain were investigated 82 mm and 80 mm, respectively. Concerning the weight loss percentage of medium, KFRI 1 strain decreased 2.4% and KFRI 180 strain 1.6%. Plug-shaped spawn had no-problem to incubate and there were no differences among the ratios of mixture. Also, conditions of plug-shaped spawns were similar, When the isolated mycelia from plugshaped spawns was incubated again, KFRI 1 50%-KFRI 180 50% showed decreased growth of mycelia compared with other treatments. The same results were obtained from test tubes filled with sawdust. When surface of spawn bottles were observed, KFRI 1 50%-KFRI 180 50% showed spots, but other treatments were not different from KFRI 1 and KFRI 180. Test was made to confirm the strains by confrontation culture. The mixture of two strains was proved to be KFRI 1 regardless the ratios of mixture. However, by the RAPD primer analysis, when KFRI 1 was mixed with KFRI 180, KFRI 180 was stronger. Thus, the confrontation line on PDA was different from the bands analysis by primers. Attempts were made whether the fruit-bodies were made at the generating condition of spawn bottles. The results were that KFRI 1 100%, KFRI 1 90%-KFRI 180 10%, KFRI 1 80%-KFRI 180 20%, KFRI 1 50%-KFRI 180 50% treatment showed fruit-body formation. The shape of fruit-body was deformed, but the gill was made normally.

Estimation of Variance Component and Environment Effects on Somatic Cell Scores by Parity in Dairy Cattle (젖소집단의 산차에 따른 체세포점수의 환경효과 및 분산성분 추정)

  • 조광현;나승환;서강석;김시동;박병호;이영창;박종대;손삼규;최재관
    • Journal of Animal Science and Technology
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    • v.48 no.1
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    • pp.39-48
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    • 2006
  • This study utilized test day of somatic cell score data of dairy cattle from 2000 to 2004. The number of data used were 124,635 of first parity, 134,308 of second parity, 77,862 of third parity, 41,787 of forth parity and 37,412 of fifth parity. The data was analyzed by least square mean method using GLM to estimate the effects of calving year, age, lactation stage, parity and season on somatic cell score. Variance component estimation using test day model was determined by using expectation maximization algorithm- restricted maximum likelihood (EM-REML) analysis method. In each parity, somatic cell score was low for younger group and was relatively high in older groups. Likewise, for lactation stage, the score was low in early-lactation and high in late-lactation in first parity and second parity. Nevertheless, for the third, fourth and fifth parity, however, high somatic cell score was observed in mid-lactation. Generally, the score was high in the peak. Although in fourth and fifth parity, the score was low in late-lactation. Environmental effect of season, somatic cell score was generally low from September to November for all parities. The score was high between June and August when the milk production is usually low. The heritability in each parity were 0.05, 0.09, 0.10, 0.05 and 0.05 for parity 1, 2, 3, 4, 5, respectively. Genetic variance value was estimated to be high in second, third and fifth parity in early-lactation and to be low in first and forth parity.

Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in, Korea

  • Han, Sung-Hee;Heo, Yun-Ah;Yang, Young-Ho;Kim, Young-Jin;Cho, Han-Ik;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.9 no.2
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    • pp.73-77
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    • 2012
  • Purpose: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but may also confer a risk for Fragile X-associated primary ovarian insufficiency and Fragile X-associated tremor/ataxia syndrome. However, prior to the implementation of such a program, the carrier prevalence in a population and the availability of effective screening test should be evaluated. The aim of our study was to determine the prevalence of premutation carriers and to evaluate the feasibility of screening test. Materials and Methods: The blood samples were obtained from 8,641 pregnant women with no family history of mental retardation. We performed a three-primer CGG repeat primed (RP) PCR using the AmplideX$^{TM}$ FMR1 PCR kit (Asuragen, Inc. Austin, TX, USA). Samples showing full mutation alleles were reflexed to Southern blot analysis for methylation status and sizing. Results: Among the 8,641 women, we found 8 premutation carriers (1:1,090, 0.09%) and 46 women with an intermediate allele (1:190, 0.53%). No woman was found to carry the fully mutated allele. All the detected alleles were within the CGG repeat range of 8-117. Among the 8,641 samples, 29 and 30 CGG repeats represent 66.6% of all cases. The CGG RP PCR method provides robust detection of expanded alleles and resolves allele zygosity, thus minimizing the number of samples that require Southern blot analysis. Conclusion: This is the first study that has focused on the prevalence of FXS premutation carriers and FMR1 allele distribution in normal pregnant women. These data have important implications for population-based fragile X carrier screening in Korea.

in vivo Embryo Production and Non-Surgical Embryo Transfer in Different Breed of Superior Sow (우수종돈 암퇘지 품종별 체내 수정란 생산비교 및 비외과적 수정란 이식에 관한 연구)

  • Jeong, Yong-dae;Jeong, Jin-Young;Sa, Soo-Jin;Kim, Ki-Hyun;Yu, Dong-Jo;Choi, Jung-Woo;Jang, Hyun-Jun;Park, Sungk-won;Woo, Jae-Seok;Cho, Eun-Seok
    • Journal of Embryo Transfer
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    • v.31 no.3
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    • pp.215-219
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    • 2016
  • Value of excellent breeding animals is important in livestock industry, but their economic life time is limited. And, many countries have been trying procuration of genetic resource in good animals. Therefore, this study was conducted to determine embryo production and to test efficiency of embryo transfer via non-surgical artificial insemination (AI) in different breed of superior sows. A total of 17 sows were used in this experiment (Duroc, n=10; Landrace, n=4; Yorkshire, n=3). The sows were artificially inseminated by semen of same breed boars. After 4 or 5 days following the AI, the embryos were obtained from the sows and then transferred to Landrace and Yorkshire recipients (n=3, respectively) by non-surgical method. The corpora lutea tended to be increased in Yorkshire and Landrace than Duroc(28 and 26 vs. 17, respectively). The recovery of embryo was 78.8% in Landrace, 65.4% in Duroc and 51.4% in Yorkshire. Duroc showed lower morulaes and early blastocyst embryos than 2, 4, 8 and 16 cell. The morula in Yorkshire was higher (P<0.05) than that of Duroc (4.7 vs. 3.4). Similarly, the morulaes and early blastocyst embryos presented greater (P<0.05) in Landrace compared with other breed sows. The recipient sows were pregnant in a Landrace only. This reason may be due to little embryos inserted in the recipients. In addition, pregnancy results were limited because of the little sows. In conclusion, ovulated ovum in sows can be affected by different breed. Also, further study needed pregnant test by using the many embryo in each breed.

Rapid detection of aneuploidy using FISH in uncultured amniocytes for prenatal diagnosis : 8-year experience

  • Hwang, Do-Yeong;Lee, Dong-Suk;Choe, Jin;Choi, Hyeh-Sook;Min, Jeong-Yong;Lee, Soo-Min;Kim, Ki-Chul
    • Journal of Genetic Medicine
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    • v.4 no.2
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    • pp.190-195
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    • 2007
  • Purpose : FISH is suggested as a useful tool for rapid detection of specific aneuploidy in uncultured amniocytes abnormality in interphase nucleus. In this study, we are going to share our experience using FISH in prenatal diagnosis and suggest the criteria for the diagnosis of aneuploidy by analyzing the results of FISH test. Methods : From January, 1999 to May, 2006, 8,613 tests in amniotic fluids obtained from 7,893 pregnant women were performed by using FISH for prenatal diagnosis of trisomy 21, trisomy 18 and trisomy 13. The indications of chromosome study were a screen positive for Down syndrome or Edwards syndrome in maternal serum marker screening test and an advanced maternal age (${\geq}35$ years old). Results : We have the 8,502 informative results from 8,613 tests (98.7%) which is submitted our criteria and the sensitivity is 98.2%. Conclusion : FISH on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. But the limitation of FISH is both expensive and labor-intensive.

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Study on Effects of Population Stratification on Haplotype Trend Test in Case-Control Studies (환자-대조군 연구에서 인구집단 층화가 일배체형 경향성 검정에 미치는 영향)

  • Kim, Jin-Heum;Kang, Dae-Ryong;Lim, Hyun-Sun;Nam, Chung-Mo
    • The Korean Journal of Applied Statistics
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    • v.22 no.5
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    • pp.1085-1096
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    • 2009
  • Population stratification can cause spurious associations between genetic markers and disease locus. In order to handle this population stratification in haplotype-based case-control association studies, we added population indicators as covariates to the haplotype trend regression model proposed by Zaykin et al. (2002). We investigated through simulations how both population stratification and measurement error in the estimation of true population of each individual affect type I error probabilities of the association tests based on both Zaykin et al.'s (2002) model and the proposed model. Based on those results, in the situation that there exists population stratification but there is no error in population classification of each individual, our proposed model does satisfy a type I error probability whereas Zaykin et al.'s (2002) model does not. However, as the measurement error increases, a type I error probability of our model correspondingly becomes larger than a nominal significance level. It implies that as long as uncertainty in the estimation of true population of each individual still remains, it is nearly impossible to avoid false positive in case-control association studies based on haplotypes.

Breeding of early maturing mulberry cultivar 'Suhyang' (Morus alba L.) for mulberry fruit production (조숙계 오디 생산용 뽕나무 품종 '수향' 육성)

  • Sung, Gyoo Byung;Kim, Hyun-Bok;Kang, Pil Don;Kim, Kee Young;Ji, Sang Duk
    • Journal of Sericultural and Entomological Science
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    • v.52 no.1
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    • pp.64-72
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    • 2014
  • We bred a mulberry cultivar named Suhyang through local adaptability test, which is under registration as a new cultivar for fruit production. Local adaptability test was carried out at four places (Suwon, Kongju, Wanju and Jinju) for six years from 2007 to 2012. This is belonging to (Morus alba L.) crossed between Josaenghongpisang (Morus alba L.) and Kaeryang (Morus alba L.) among mulberry genetic resources preserved in Suwon. Suhyang was high yielding cultivar in fruit productivity by 12% compared to control cultivar 'Chungil (Morus alba L.)' for four years. Although Suhyang was higher in sugar content of mulberry fruits, it was bigger than that of 'Chungil'. It is adaptable to every where except the places where cold damage and sclerotic disease happen frequently.

Comparative Analyses for Aroma and Agronomic Traits of Native Rice Cultivars from Central Asia

  • Sarhadi, Wakil Ahmad;Hien, Nguyen Loc;Zanjani, Mehran;Yosofzai, Wahida;Yoshihashi, Tadashi;Hirata, Yutaka
    • Journal of Crop Science and Biotechnology
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    • v.11 no.1
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    • pp.17-22
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    • 2008
  • Aromatic rice has become popular owing to its aroma. Growing demand for aromatic rice has spurred interest in the development of domestic cultivars that offer similar combinations of grain attributes such as texture, cooking characteristics, aroma, and taste. In this study, the most important agronomic attributes and aroma of 26 cultivars from Afghanistan, Iran, and Uzbekistan, and controls from Japan, Thailand, and India were characterized. Also $F_2$ populations derived from the cross between(Jasmine 85 aromatic$\times$Nipponbare non-aromatic) and(Jasmine 85$\times$Basmati 370 aromatic) were obtained. Tasting individual grains, cooking test, 1.7% KOH sensory test, and molecular marker analysis have been applied to distinguish between aromatic and non-aromatic rice. Diversity for some traits of agronomic importance, such as plant height was detected among countries, e.g. Afghan cultivars classified as tall, and Iranian and Uzbek intermediate and short, respectively. Differentiations of panicle, grain, leaf, basal internode, and culm dimension among rice cultivars, indicating the source of rice diversity in Central Asia. According to the results, 6 of 10, 2 of 7, and 0 of 6 of Afghan, Iranian, and Uzbek rice cultivars were scored as aromatic, respectively. Therefore, Afghan cultivars are a good source of aromatic rice germplasm for Central Asia. The expression between aromatic and non-aromatic, and aromatic and aromatic combinations has been evaluated. The observed segregation ratio of these crosses in the $F_2$ populations was tested by $x^2$ analysis against the expected ratio for a single gene. A segregation ratio of 3:1 between non-aromatic and aromatic combination has been detected, while segregation has not been detected between the aromatic and aromatic combinations. Also, parallel results were obtained from the tested aromatic rice cultivars. Thus, our results suggest that a single recessive gene controls aroma in all aromatic rice cultivars.

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