• Title/Summary/Keyword: 염색체이상

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Linkage Map and Quantitative Trait Loci(QTL) on Pig Chromosome 6 (돼지 염색체 6번의 연관지도 및 양적형질 유전자좌위 탐색)

  • Lee, H.Y.;Choi, B.H.;Kim, T.H.;Park, E.W.;Yoon, D.H.;Lee, H.K.;Jeon, G.J.;Cheong, I.C.;Hong, K.C.
    • Journal of Animal Science and Technology
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    • v.45 no.6
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    • pp.939-948
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    • 2003
  • The objective of this study was to identify the quantitative traits loci(QTL) for economically important traits such as growth, carcass and meat quality on pig chromosome 6. A three generation resource population was constructed from cross between Korean native boars and Landrace sows. A total of 240 F$_2$ animals were produced using intercross between 10 boars and 31 sows of F$_1$ animals. Phenotypic data including body weight at 3 weeks, backfat thickness, muscle pH, shear force and crude protein level were collected from F$_2$ animals. Animals including grandparents(F$_0$), parents(F$_1$) and offspring(F$_2$) were genotyped for 29 microsatellite markers and PCR-RFLP marker on chromosome 6. The linkage analysis was performed using CRI-MAP software version 2.4(Green et al., 1990) with FIXED option to obtain the map distances. The total length of SSC6 linkage map estimated in this study was 169.3cM. The average distance between adjacent markers was 6.05cM. For mapping of QTL, we used F$_2$ QTL Analysis Servlet of QTL express, a web-based QTL mapping tool(http://qtl.cap.ed.ac.uk). Five QTLs were detected at 5% chromosome-wide level for body weight of 3 weeks of age, shear force, meat pH at 24 hours after slaughtering, backfat thickness and crude protein level on SSC6.

Analysis of Telomere Length and Telomerase Activity of Tissues in Korean Native Chicken (한국 재래닭의 주령별 각 조직의 텔로미어 함량과 텔로머레이스 활성도 분석)

  • Jung G.S.;Cho E.J.;Choi D.S.;Lee M.J.;Park C.;Jeon I.S.;Sohn S.H.
    • Korean Journal of Poultry Science
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    • v.33 no.2
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    • pp.97-103
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    • 2006
  • Telomeres are essential for chromosome stability and are related with cell senescence, apoptosis and cancer. Even though telomere length and telomerase activity have been studied extensively, very little is known to analyze the telomere dynamics in chicken cells. This study was carried out to analyze the telomere distribution and telomerase activity of Korean Native Chicken cells along with aging. The cells were collected from brain, heart, liver, kidney and germinal tissues during physiological stages. Telomere distribution was analyzed by Quantitative-Fluorescence in situ Hybridization (Q-FISH) techniques using the chicken telomeric DNA probe. Telomerase activity was performed by Telomeric Repeat Amplification Protocol (TRAP) assay. In results, the telomeres of chicken were found at the ends of all chromosomes with the interstitial telomeres on chromosomes 1, 2 and 3. The amount of telomeres on chicken cells was decreased along with aging in most tissues. Furthermore, the telomere quantity was significantly different among tissues. The relative amount of telomeres in proliferous cells such as testis cells had much more than those of liver, brain, heart, blood and kidney cells. The telomerase activity was down-regulated in cells of brain, heart and liver tissues. Whereas gonadal cells showed a constitutive activity of telomerase during all stage of life. In conclusions, the telomere quantity and telomerase activity in chicken are closely relate to cell proliferation and tissue specificity during developmental stages and aging. There is also closely correlated between the amounts of telomeric DNA and telomerase activity in chicken tissues.

The Production of Sex Determined Cattle by Embryonic Sexing Using Fluorescence In Situ Hybridization Technique (FISH 기법을 이용한 소 수정란의 성감별과 산자 생산)

  • Sohn, S.H.;Park, H.
    • Proceedings of the Korean Society of Embryo Transfer Conference
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    • 2007.05a
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    • pp.39-50
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    • 2007
  • Sexing from bovine embryos fertilized in vitro implicates a possibility of the sex controlled cattle production. This study was carried out to produce the sex determined cattle through the embryonic sexing by fluorescence in situ hybridization (FISH) technique. FISH was achieved in in vitro fertilized bovine embryos using a bovine Y-specific DNA probe constructed from the btDYZ-1 sequence. Using this probe, a male-specific signal was detected on 100% of Y-chromosome bearing metaphase specimens. The analyzable rate of embryonic sexing by FISH technique was about 93% (365/393) regardless of embryonic stages. As tested single blastomere by FISH and then karyotype with their biopsied embryos, the accuracy of sex determination with FISH was 97.6%. We tried the embryo transfer with sex determined embryos on 15 cattle. Among them, the 5 cattle delivered calf with expected sex last year.

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Identification of Tumor Suppressor Loci on the Short Arm of Chromosome 16 in Primary Small Cell Lung Cancers (원발성 소세포폐암에서 염색체 16번의 단완에 위치한 종양억제유전자좌의 확인)

  • Kee, Hyun Jung;Shin, Ju Hye;Chang, Joon;Chung, Kyung Young;Shin, Dong Hwan;Kim, Young Sam;Chang, Yoon Soo;Kim, Sung Kyu;Kwak, Seung Min;Kim, Se kyu
    • Tuberculosis and Respiratory Diseases
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    • v.55 no.6
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    • pp.597-611
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    • 2003
  • Background : Loss of the short arm of chromosome 16 is a frequent event in various cancers, which suggests the presence of tumor suppressor gene(s) there. To map precise tumor suppressor loci on the chromosome arm for further positional cloning efforts, we tested 23 primary small cell lung cancers. Method : The DNAs extracted from paraffin embedded tissue blocks with primary tumor and corresponding control tissue were investigated. Twenty polymorphic microsatellite markers located in the short arm of chromosome 16 were used in the microsatellite analysis. Results : We found that six (26.1%) of 23 tumors exhibited LOH in at least one of tested microsatellite markers. Two (8.7%) of 6 tumors exhibiting LOH lost a larger area in chromosome 16p. LOH was observed in five common deleted regions at 16p. Among those areas, LOH between D16S668 and D16S749 was most frequent (21.1%). LOH was also observed at four other regions, between D16S3024 and D16S748, D16S405, D16S420, and D16S753. Six of 23 tumors exhibited shifted bands in at least one of the tested microsatellite markers. Shifted bands occurred in 3.3% (15 of 460) of the loci tested. Conclusion : Our data demonstrated that at least five tumor suppressor loci might exist in the short arm of chromosome 16 and that they may play an important role in small cell lung cancer tumorigenesis.

Rapid prenatal diagnosis of Down syndrome and Edward syndrome by fluorescence In situ hybridization : Clinical experience with 309 cases (FISH를 이용한 다운증후군과 에드워드증후군의 신속한 산전확인 : 309예의 임상적 고찰)

  • Kang, Jin-Hee;Lee, Sook-Hwan;Park, Sang-Hee;Park, Ji-Hyun;Kim, Ji-Youn;Han, Won-Bo;Kim, In-Hyun;Park, Sang-Won;Jang, Jin-Beum;Lee, Kyoung-Jin;Park, Hee-Jin;Jun, Hye-Sun;Lee, Kyung-Ju;Shin, Joong-Sik;Cha, Dong-Hyun
    • Journal of Genetic Medicine
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    • v.4 no.1
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    • pp.64-71
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    • 2007
  • Purpose : The purpose of this study was to evaluate the clinical utility of rapid detection of Down syndrome and Edward syndrome by Interphase Fluorescence in Situ Hybridization (FISH) analysis. Methods : Aretrospective study in 309 cases of amniotic fluid samples, analysed by interphase FISH with DNA probes specific to chromosome 18 and 21, was performed. All FISH results w ere compared with conventional cytogenetic karyotypings. Results : The results were considered as informative and they were obtained within 48 hrs. A case of Down syndrome and a case of Edward syndrome were diagnosed by FISH and confirmed by subsequent cytogenetic analysis. In 12 cases with normal FISH results, the cytogenetic analysis showed a case of partial trisomy 22, three cases of sex chromosomal aneuploidy, two cases of mosaicism, two cases of microdeletion, and four cases of structural rearrangement. Conclusion : FISH is a rapid and effective diagnostic method, which can be used as an adjunctive test to cytogenetic analysis, for prenatal identification of chromosome aneuploidies. For the more genome-wide screening with variety of probes, the technique of FISH is both expensive and labor-intensive.

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Identification of Leaf Blast Resistance Genes Derived from a Korean Weedy Rice, Ganghwaaengmi 11 (잡초성벼인 강화앵미11 유래 잎도열병 저항성 유전자 탐색)

  • Suh, Jung-Pil;Cho, Young-Chan;Kim, Jeong-Ju;Shin, Young-Seop;Yang, Chang-Ihn;Roh, Jae-Hwan;Kim, Yeon-Gyu
    • Korean Journal of Breeding Science
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    • v.42 no.4
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    • pp.390-396
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    • 2010
  • A weedy rice, Ganghwaaengmi 11, shows high level of leaf blast resistance. The chromosomal number and locations of genes conferring the leaf blast resistance were detected by QTL (quantitative trait loci) analysis using SSR markers in the 120 RILs (recombinant inbred lines) derived from the cross between Nagdongbyeo and Ganghwaaengmi 11. Ganghwaaengmi 11 expressed compatibility with 20 of the 45 inoculated blast isolates, in contrast to Nagdongbyeo with 44 compatible isolates. To identify QTLs affecting partial resistance, RILs were assessed in upland blast nursery in three regions and inoculated with selected nine blast isolates. QTLs for resistance to blast isolates were identified on chromosomes 7, 11 and 12. Three QTLs associated with blast resistance in nursery test at three regions were also detected on chromosomes 7, 11 and 12. The QTL commonly detected on chromosome 12 was only increased blast resistance by Ganghwaaengmi 11 allele. This QTL accounted for 60.3~78.6% of the phenotypic variation in the blast nursery test. OSR32 and RM101 markers tightly linked to QTL for blast resistance on chromosome 12 might be useful for marker-assisted selection (MAS) and gene pyramiding to improve the blast resistance of japonica rice.

Major Characteristics of Hordeum bulbosum and Haploid Production of Cultivated Barley by Pollinating with H. bulbosum L. (야생보리(Hordeum bulbosum)의 주요 특성 및 이를 이용한 보리 반수체육성)

  • 정동희;민경수;천종은
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.38 no.6
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    • pp.531-536
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    • 1993
  • Bulbosum method, which haploids are developed by pollinating with H. bulbosum have been productive to be recommended as an effective method for the production of genetically stable normal barley hybrids. The purpose of this study is to investigate several characters of H. bulbosum, seed set and embryo development rate pollinated with H. bulbosum in order to establish a method for improvement of embryo development and to find conditions favoring plant development from the embryos cultured in vitro. Three lines of H. bulbosum used as pollinators: GBC(2${\times}$), Spenish diploid(2${\times}$) and var. Jaaska (4${\times}$) were morphologically similar, having characteristically narrow leaves, narrow and long culms, long spikes and anthesis duration in comparison with H. vulgare. H. bulbosum, var. Jaaska(4${\times}$) on being pollinated to barley cultivars, increased embryo formation by 8% and plant development in vitro by three times compared to the other diploid lines. the plants developed were not normal barley hybrids but had some H. bulbosum chromosomes uneliminated, indicating that the line was unstable as a pollinator to induce barley haploids.

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Selection of Hypo- and Hyper-tetraploid Seedlings from Abnormal Cotyledons Seedlings Obtained during Crossing of Tetraploid Grapes (Vitis Complexes) (4배체 포도간 교배된 이상자엽실생으로부터 저·고4배체 식물의 선발)

  • Park, Young-Sik;Kim, In-Jong;Park, Sung-Min
    • Horticultural Science & Technology
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    • v.28 no.5
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    • pp.810-817
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    • 2010
  • We observed abnormal morphology of cotyledons occurring in seedlings derived from open-pollinated and cross-pollinated tetraploid grapes and selected aneuploids, especially hypo- and hyper-tetraploid in seedlings with abnormal morphology of cotyledons. Five types of morphologically abnormal cotyledons were observed. In open-pollination of four tetraploid grapes, the frequency of abnormal cotyledons was 1.6% (49 of 3029 seeds). Percentage of aneuploids in the seedlings of abnormal cotyledons was 20.4% (10 of 49 seedlings). Aneuploids in open-pollination consisted of three (4n = 4x-2), four (4n = 4x-1), and three (4n = 4x+1) seedlings. In cross-pollination of tetraploids, the frequency of abnormal cotyledons was 3.4% (59 of 1729 seeds). Percentage of aneuploids in the seedlings with abnormal cotyledons was 22.0% (13 of 59 seedlings). Aneuploids from cross-pollination of tetraploids consisted of two (4n = 4x-2), nine (4n = 4x-1), one (4n = 4x+1), and one (4n = 4x+3) seedlings. According to the results, although the abnormal cotyledon morphology of seedlings obtained from crossing between tetraploid grapes appeared at low rate (2.3%), aneuploid seedlings occurred at high rate (22.0%); therefore, it indicated that this selection strategy might be very efficient in the initial seedling stage.

The usefulness of diagnostic tests in children with language delay (언어 발달지연 환아에서 진단적 검사의 유용성)

  • Oh, Seung Taek;Lee, Eun Sil;Moon, Han Ku
    • Clinical and Experimental Pediatrics
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    • v.52 no.3
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    • pp.289-294
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    • 2009
  • Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

A Cytogenetic Study in Patients Referred for Suspected Chromosomal Abnormalities (염색체 이상 환자의 세포 유전학적 연구)

  • Oh, S.K.;Lee, H.H.;Moon, S.Y.;Chang, Y.S.
    • Clinical and Experimental Reproductive Medicine
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    • v.12 no.2
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    • pp.39-57
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    • 1985
  • Presented in this paper the data from a chromosome study of 397 patients referred for suspected chromosmal abnormalities. Karyotypes were obtained using short-term blood culture and direct method. Of these 238 patients had normal chromosome complements; 159 (40.1%) patients had chromosome abnormality. Among all patients with chromosome abnormalities, 82.4% (131/159) had aberrations of chromosome number, the others 17.60/0 (28/159\ had aberrations of chromosome structure. Ten had a chromosome rearrangement; Five of them were reciprocal and five Robertsonian translocations. Four patients with pericentric inversions and one with paracentric inversions and four with isochromosomes were observed. There were four patients with marker chromosome, two patients had a chromosome insertion; and three others. (additional abnormal chromosomes.) Thus the results of the present study indicate the importance of cytogenetic evaluation in clinically abnormal patients.

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