• Title/Summary/Keyword: 염색체수

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Genetic Diversity and Discrimination of Recently Distributed Korean Cultivars by SSR Markers (SSR 마커에 의한 최근 육성 보급된 한국 벼 품종의 다양성과 품종 판별)

  • Sun, Ming-Mao;Choi, Keun-Jin;Kim, Hong-Sig;Song, Beom-Heon;Woo, Sun-Hee;Lee, Chul-Won;Jong, Seung-Keun;Cho, Yong-Gu
    • Korean Journal of Breeding Science
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    • v.41 no.2
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    • pp.115-125
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    • 2009
  • This study was undertaken to investigate the genetic diversity and to develop a technique for cultivar discrimination using SSR markers in rice. Sixty-seven recently distributed rice cultivars in Korea from 1998 to 2005 were evaluated by 20 SSR markers. A total of 149 alleles were produced ranging from 4 to 14 alleles with an average of 7.5 alleles per locus. The molecular weight of alleles per locus varied from 4 bp (RM253) to 51 bp (RM335), and PIC values ranged from 0.45 (RM202) to 0.87 (RM204) with an average of 0.67. Of them, seven markers, RM204, RM257, RM21, RM224, RM249, RM253, and RM264, were selected as key markers for differentiating rice varieties. The seven markers produced a total of 67 alleles with an average of 9.6 alleles per marker. PIC values ranged from 0.48 (RM253) to 0.87 (RM204) with an average of 0.72. The 63 cultivars (94%) out of 67 cultivars could be individually identified by the genotype using the seven SSR markers, which will be applicable to discriminating rice cultivars.

Studies on the Biological Effects of Chemosterilant, Hempa, on the Rice Weevil (Sitophilus oryzae 1.) and Transmission of Sterility (화학적 불임유기물질 Hempa가 쌀바구미(Sitophilus oryzae L.)에 미치는 생물학적 영향 및 불임성의 전달에 관한 연구)

  • Shim Jai Wook
    • Korean journal of applied entomology
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    • v.12 no.1
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    • pp.1-21
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    • 1973
  • Some experiments were conducted to investigate the effects of the chemosterilant, hempa, on the biology of the rice weevil, Sitophilus oryzae L., and the transmission of the lethal factors in the progeny. One to three days old adult males were fed on the wheat grains treated with concentrations of 0.0625, 0.125, 0.25, and $0.5\%$ of hempa water solution. The effects of the treatment on the mortality, longevity, and the performance of oviposition were examined for the Pl generation, and the hatchability and mortality in the postembryonic development were also tested in the $F_1,\;F_2,\;BC_1,\;F_3,\;and\;BC_2$ generations to analyze the inheritance of the lethal factors. The results obtained were summarized as follows. (1) The average longevity of the treated males were ranged from 26.6 to 30.4 days, and indicated no statistical differences. (2) The mortality of the treated males were ranged between $3.3\%\;and\;13.3\%$ and showed no statistical significance. (3) The overall mean number of eggs laid by a female mated to a treated male with concentrations of 0.0625, 0.125, 0.26 and $0.5\%$ were 3.78, 4.05, 3.75 and 3.61 for the respective treatments, and they were not differ significantly from those of control which were 3.60 per female per 3 day period. The unmated female laid 1.91 in the same period, and significantly differ from those in other experimental groups. (4) The overall mean hatchability of the eggs laid by the females mated with males that had been treated with various concentrations of hempa were 86.82, 64.77, 53.47, 40.33 and $24.78\%$ for the respective concentrations of 0, 0.0625, 0.125, 0.25 and $0.5\%$. The hatchability decreased with the increasing concentrations. (5) The minimum hatchabilities were obtained from the eggs laid in the period of 10-12 days after treatment, then the hatchability increased showing some recovery. The recovery seemed to be very much delayed for the males which had been treated with the greater concentrations. Such a difference in hatchability might be related with the sensitivity of the developmental stages of the sperms, and broader spectrum in the stages and severer effects seemed to be associated with the increased concentrations. (6) The overall mean of larval mortality in the $F_l$ generation were 6.55, 17.89, 27.40, 35.42 and $52.17\%$ for the respective concentrations of 0,0.0625, 0.125,0.25 and $0.5\%$. And there was a tendency to increase in the mortality with the increase of concentrations. (7) The correlation coefficients between per cent sterile eggs and larval mortality for the experimental plots of 0.125, 0.25 and $0.5\%$ treatments showed r=+0.83 and +0.85, respectively, and it seemed to be close correlation between the lethal effects on the embryonic and post-embryonic developments. (8) Since the $SC_{50}$ of the sterile eggs was $0.133\%$ and $SC_{50}$ of the larval mortality was $0.565\%$, it was considered that tile lethal factors expressed more in the egg stages than the larval stages. (9) The ratio of female to male in the $F_l$ adults showed 100 : 125, 100 : 108 and 100 : 124 for the plots of 0.125, 0.25 and $0.5\%$ treatments, respectively. And it n·as considered that the sex ratio distortions might occur with the higher concentrations. (10) When the F, males originated 1.on the eggs had been laid by p, in the period of 16-18 days after treatment, were crossed to normal females $(BC_1)$ and made sib matings $(F_2)$, the per cent sterile eggs of the $BC_1$ generation were 13.88 and $33.04\%$ , and were 31.01 and $38.73\%$ for the $F_2$generation with the plots of 0.0625 and $0.125\%$ treatment, respectively. And these seemed to be a results of the $F_1$ individuals are carrying some chromosomal aberrations (11) The larval mortality was the highest in the $F_2$ plot and followed the female backcross plot, and the least in the male backcrosses. (12) The proportions of 1st and 2nd instar larvae among the larval development at tile 17th day after oviposition were 10.98, 27.26, 32.98 and $15.73\%$ in the normal female $\times$ normal male, $F_1$ female$\times$normal male, normal $female \;\times F_1$ male and $female \;\times F_1$ male plots, respectively. It was considered that the larval development might be delayed by the treatment in the 2nd generation. (13) Per cent larval mortality and sterile eggs were greater in the $F_2$ sib mating plots $(F_3)$ than both of $F_2$ backcrosses. Therefore, it seemed that some of the recessive lethal mutations might affect in the further generations. (14) The sterility, induced by the treatment of chemosterilant, hempa, was considered as the result of the dominant lethal mutations due to chromosomal aberrations such as translocation and/or deletion. The effects of these lethal factors seemed to be inherited tip to 3rd generation after treatment.

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Establishment of Embryonic Stem Cell Line from Isolated Blastomeres from Mouse Preimplantation Embryos (생쥐 초기 배아에서 분리한 할구를 이용한 배아줄기세포주 확립)

  • Lim, Chun Kyu;Sung, Ji Hye;Choi, Hye Won;Cho, Jae Won;Shin, Mi Ra;Jun, Jin Hyun
    • Clinical and Experimental Reproductive Medicine
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    • v.33 no.1
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    • pp.25-33
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    • 2006
  • Objective: The aim of this study was to investigate whether embryonic stem (ES) cells can be established from isolated blastomeres of mouse embryos. Methods: Blastomeres were separated from mouse (C57Bl/6J) 2- or 4-cell embryos. Isolated blastomeres or whole 4-cell embryos were co-cultured with mitosis-arrested STO feeder cells in DMEM supplemented with recombinant murine leukemia inhibitory factor and ES-qualified fetal bovine serum. After the tentative ES cell lines were maintained from isolated blastomeres or whole embryos, some of them were frozen and the others were sub-cultured continually. Characteristics of tentative ES cell lines as were evaluated for specific genes expressions with immunocytochemistry and RT-PCR. Results: One ES cell line (3.0%) was established from isolated blastomere of 2-cell embryo and one cell line (4.0%) from isolated two blastomeres of 4-cell embryo. And five cell lines (16.7%) were established from whole 4-cell embryos. Both cell lines from isolated blastomere and whole embryo expressed mouse ES cell specific markers such as SSEA-1, Oct-4 and alkaline phosphatase. Marker genes of three germ layers were expressed from embryoid bodies of both cell lines. Conclusion: This study suggests that mouse ES cells could be established from isolated blastomeres, although the efficiency is lower than whole embryos. This animal model could be applied to establishment of autologous human ES cells from biopsied blastomeres of preimplantation embryos in human IVF-ET program.

The effects of chromium exposure on sister chromatid exchange and concentration of 8-hydroxydeoxyguanosine (크롬 폭로가 자매염색분체교환 빈도 및 8-hydroxydeoxyguanosine 농도에 미치는 영향)

  • Han, Sang-Hwan;Cho, Soo-Hun;Kim, Heon;Ha, Mi-Na;Joo, Young-Soo;Park, Soo-Min;Kwon, Ho-Jang;Kim, Yong-Dae;Chung, Myung-Hee
    • Journal of Preventive Medicine and Public Health
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    • v.28 no.2 s.50
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    • pp.511-525
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    • 1995
  • To elucidate some DNA adducts as a biological marker for workers of chromate pigment, the effects of chromium exposure on the formation of 8-hydroxydeoxyguanosine(8-OH-dG) and sister chromatid exchanges(SCEs) frequency in 38 workers of a pigment plant in Bucheon which utilized lead chromates, were examined. The chromium contents of venous blood and urine were measured as working environmental exposure level. The concentrations of 8-OH-dG in DNA isolated from lymphocytes were determined with high performance liquid chromatography and electrochemical detector and denoted as a molar ratio of 8-OH-dG to deoxyguanosine(dG). The SCEs frequency were analyzed in DNA isolated from lymphocytes. A significant correlation was found between creatinine adjusted urine chromium concentration and the molar ratio of 8-OH-dG to dG(r=0.47, p<0.01). After adjusting the current smoking habit, the correlation coefficient was increased(r=0.62, p<0.05). However, there was no significant correlation between the SCE frequency and chromium exposure. This significant results between molar ratio of 8-OH-dG to dG and chromium exposure are in good agreement with in vitro studies that support the importance of DNA adduct formation for the carcinogenic effect of chromium.

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A Case of Kabuki Syndrome Confirmed by Genetic Analysis: A Novel Frameshift Mutation in the KMT2D Gene (분자유전학적으로 진단된 가부키 증후군 1례)

  • Park, Su Jin;Ahn, Moon Bae;Jang, Woori;Cho, Won Kyung;Chae, Hyo Jin;Kim, Myung Shin;Suh, Byung Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.17 no.3
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    • pp.103-108
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    • 2017
  • Kabuki syndrome is a rare congenital disorder that causes multiple birth defects and mental retardation. Mutation of the lysine methyltransferase 2D (KMT2D) gene is the primary cause of Kabuki syndrome. We report a 4-year-old Korean girl diagnosed with Kabuki syndrome based on distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows, depressed nasal tip, prominent ears), skeletal anomalies, short stature, and molecular analysis, which revealed a novel frameshift mutation in the KMT2D gene. A 4-year-old patient had a past history of congenital cardiac malformations (coarctation of the aorta, ventricular septal defect, atrial septal defect, patent ductus arteriosus), subclinical hypothyroidism and dysmorphic features at birth including webbed neck, short fingers, high arched palate, micrognathia and horseshoe kidney. She showed unique facial features such as a long palpebral fissure, long eyelashes, arched eyebrows with sparseness of the lateral third, broad nasal root, anteverted ears, and small mouth. Her facial features suggested Kabuki syndrome, and genetic analysis discovered a novel heterozygous frameshift mutation (c.4379dup, p.Leu1461Thrfs*30) in exon 15 of the KMT2D gene. The diagnosis of our 4-year-old patient was made through thorough physical examination and history taking, and genetic testing. It is challenging to diagnose patients with Kabuki syndrome at birth, since the characteristic facial features are expressed gradually during growth. Clinical suspicion aroused by regular follow-ups may lead to earlier diagnosis and interventions.

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Development of a Genetic Map of Chili Pepper Using Single Nucleotide Polymorphism Markers Generated from Next Generation Resequencing of Parents (양친의 대량 염기서열 해독을 통해 개발된 SNP 분자표지를 이용한 고추 유전자지도 작성)

  • Lee, Jundae;Park, Seok Jin;Do, Jae Wahng;Han, Jung-Heon;Choi, Doil;Yoon, Jae Bok
    • Horticultural Science & Technology
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    • v.31 no.4
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    • pp.473-482
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    • 2013
  • Molecular markers, as an efficient selection tool, have been and is being used for practical breeding program in chili pepper (Capsicum annuum L.). Recently, a lot of researches on inheritance and genetic analysis for quantitative traits including capsaicinoids, carotenoids, and sugar content in pepper are being performed worldwide. It has been also reported that QTL mapping is a necessary tool to develop molecular markers associated with the quantitative traits. In this study, we suggested a new method to construct a pepper genetic map using SNP (HRM) markers generated from NGS resequencing of female and male parents. Plant materials were C. annuum 'NB1' (female parent), C. chinense 'Jolokia' (male parent), and their $F_2$ population consisting of 94 progenies. Sequences of 4.6 Gbp and 6.2 Gbp were obtained from NGS resequencing of 'NB1' and 'Jolokia', respectively. Totally, 4.29 million SNPs between 'NB1' and 'Jolokia' were detected and the 1.76 million SNPs were clearly identified. Among them, total 145 SNP (HRM) primer pairs covering pepper genetic map were selected, and the 116 SNP (HRM) markers of them were located on this map. Total distance of the map, which consisted of 12 linkage groups and matched with basic chromosome numbers of pepper, was 1,167.9 cM. According to the mapping result, we concluded that our mapping method was suitable to construct a pepper genetic map fast and accurately. In addition, the genetic map could be directly used for QTL analysis of traits different between both parents.

Effect of the Fatty Acid Synthase Gene for Beef Quantity Traits in Hanwoo Breeding Stock (한우 Fatty Acid Synthase (FASN) 유전자 반수체형의 후대검정우 육량 및 육질에 미치는 영향)

  • Kim, Sang-Wook;Lee, Jun-Heon;Kim, Jin-Ho;Won, You-Seog;Kim, Nae-Soo;Kim, Kwan-Suk
    • Journal of Animal Science and Technology
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    • v.52 no.1
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    • pp.9-16
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    • 2010
  • A previous study has shown that the g.17924G>A polymorphism of fatty acid synthase (FASN) is associated with unsaturated fatty acid composition in the Hanwoo beef, hence this study was conducted to evaluate the effect of single nucleotide polymorphisms (SNPs) within FASN gene on the selection phenotypes of Hanwoo breeding stock. A total of 925 progeny test steers were used to genotype g.11280G>A, g.13125T>C, and g.17924G>A polymorphisms and significant associations were found among g.11280G>A, g.17924G>A, and carcass traits, such as carcass weight, backfat thickness, and beef quantity index. No significant association was found between g.13125T>C and carcass traits. Although the degree of linkage disequilibrium (LD) was not strong among g.11280G>A, g.13125T>C, and g.17924G>A in the LD analysis, four major haplotype classes were formed with the genotypic information within the FASN gene; the frequencies of the halpotypeswere -GCG-[0.378], -ATG-[0.301], -GTA-[0.191], and -ACG-[0.063], respectively. Phenotypic association was performed among these haploptypes, and the haplotype 2 (-ATG-)was significantly associated with higher carcass weight when compared to the other haplotypes, i.e. haplotype 1 (-GCG-) and haplotype 3 (-GTA-). A copy number of the FASN haplotype 3 (-GTA-) had also a significant association with carcass weight of subjects. In conclusion, it was observed that two polymorphisms (g.11280G>A and g.17924G>A) and their haplotypes within the FASN gene are consistently associated with carcass traits. Therefore, it is desirable to use the FASN polymorphisms for pre-selection program as genetic marker with improved carcass yield and beef quality of the Hanwoo sire at the Hanwoo Improvement Center as well as for commercial Hanwoo producers, the FASN genotypic information can be used for a part of selecting Hanwoo dam for superior calf production.

Telomerase Activity in Primary Lung Cancers (원발성 폐암에 있어서 Telomerase 활성도에 대한 연구)

  • Yun, Sang-Myung;Kwak, Kyung-Rok;Hwang, Jee-Yoon;Park, Sam-Seok;Jeon, Doo-Soo;Kim, Cheol-Min;Lee, Min-Ki;Park, Soon-Kew
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.2
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    • pp.195-203
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    • 1999
  • Background: Telomerase enzyme activity is not detected in most normal cells, a phonomenon believed to be associated with limitations on cellular proliferation. Since this activity is detected in nearly all human tumor, including lung cancers, it has been suggested that telomerase activation may be coupled to acquisition of malignant phenotype. In this study, we determined whether telomerase activity was associated with tumor pathologic stage. Methods: Primary tumor specimens obtained by bronchoscopic biopsies from 33 patients were analyzed. Telomerase activity was measured by means of a modified Telomeric Repeat Amplication Protocol(TRAP) assay. Results: Telomerase activity was detected in 23 of the 27 non-small-cell lung cancer and 5 of 6 small-cell lung cancer. A few primary tumors did not appear to have detectable telomerase activity. Positive associations were found between the telomerase-positive rate and tumor stage(p<0.05). Conclusion: High telomerase activity is detected frequently in primary lung cancers that exhibit high tumor cell proliferation rates and advanced pathologic stage.

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A Case of Citrullinemia Type 1 in ASS 1 Mutation (ASS 1 유전자 돌연변이로 확진된 시트룰린혈증 1형 1례)

  • Yim, Dae kyoon;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Cho, Sung Yoon;Park, Hyung Doo;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.15 no.1
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    • pp.29-34
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    • 2015
  • Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.

Genetic Diversity and Phylogenetic Relationship in Korean Strains of Lentinus lepideus Based on PCR Polymorphism (PCR 다형성 분석에 의한 한국산 잣버섯의 유전적 다양성 및 유연관계)

  • Lee, Jae-Seong;Cho, Hae-Jin;Yoon, Ki-Nam;Alam, Nuhu;Lee, Kyung-Lim;Shim, Mi-Ja;Lee, Min-Woong;Lee, Yun-Hae;Jang, Myoung-Jun;Ju, Young-Chul;Cheong, Jong-Chun;Shin, Pyung-Gyun;Yoo, Young-Bok;Lee, U-Youn;Lee, Tae-Soo
    • The Korean Journal of Mycology
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    • v.38 no.2
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    • pp.105-111
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    • 2010
  • Lentinus lepideus, known as train wrecker fungus, has been used for nutritional and medicinal purposes. Recently, commercial cultivation technique and a new cultivar of the mushroom were developed. To investigate the genetic diversity and phylogenetic relationship for identifying the mushroom strains and cultivar, one commercial and 13 strains of Lentinus lepideus from different geographical regions of Korea were analyzed by ITS regions of rDNA and RAPD of genomic DNA. Three strains of Lentinus edodes were also used for the analysis. The size of the ITS1 and ITS2 regions of rDNA from the different strains varied from 173 to 179 bp and 203 to 205 bp, respectively. The sequence of ITS1 was more variable than that of ITS2, while the 5.8S sequences were identical with 156 base pairs. A phylogenetic tree based on the ITS region sequences indicated that selected strains could be classified into four clusters, while 3 strains of L. edodes was divided into a new cluster. Ten primers out of 20 arbitrary primers used in the RAPD-PCR efficiently amplified the genomic DNA. The numbers of amplified DNA bands varied with the primers and strains, with polymorphic DNA fragments in the range from 0.2 to 2.6 kb. The results showed that phylogenetic relationship among Korean strains of Lentnus lepideus is high, but genetic diversity is low.