• Korean Journal of Breeding Science
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• v.40 no.2
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• pp.119-127
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• 2008

A total of 41 microsatellite markers were used with 29 genotypes to examine the relationship between SSR polymorphisms and N-use efficiency related traits with a goal to identify the putative QTLs related to these traits. These primers yielded a total of 183 alleles (average 4.46 alleles per primer), and polymorphism information content (PIC) values of the SSRs ranged from 0.119 to 0.805 with mean value of 0.425. Correlation coefficients were obtained among the four N-use efficiency traits in the 34 accessions and significant positive correlations of relative ratios between grain yield and harvest index (r=0.3404) and total dry matter (r=0.7976), while N uptake showed a moderate level of correlation with the ratios of the grain yield and total dry matter, respectively. 36.5% (15/41) SSR markers were monomorphic among the 25 japonica accessions out of the 29 accessions. Association between SSR genotypes and phenotypic performances from the total (29) or japonica (25) accessions was tested based on a single point analysis. Three putative QTL regions were detected for the ratio of grain yield. These include the chromosomal region containing the RM283 locus on chromosome 1 and RM25 on chromosome 8 (all and japonica accessions) and the region with the SSR marker, RM206 on chromosome 11 (the japonica accessions). For the total dry matter ratio, two chromosomal regions were identified as the putative QTL region. One is the region with the SSR marker, RM162 on chromosome 6 (all and japonica accessions) and the other was the one with the SSR marker RM25 on chromosome 8 (the japonica accessions). Among these markers, RM25 showed associations with both traits.

• Korean Journal of Animal Reproduction
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• v.5 no.2
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• pp.49-55
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• 1981

This experiment was conducted to investigate the effects of temperature and time of sedimentation and dilutor on the a, pp.arance of B-body in top and bottom fractions at separation of X and Y- chromosome bearing spermatozoa in boar semen. 1. The top fraction showed higher a, pp.arence rate of B-body than the bottom. 2. Sixty minutes at 5 and 15$^{\circ}C$ and 90 min, at 25$^{\circ}C$ showed highest difference of B-body a, pp.arence rate between top and bottom fractions. The highest difference was shown in the treatments of Sg at 5$^{\circ}C$, C at 15$^{\circ}C$ and P at 25$^{\circ}C$. 3. The highest difference was shown in the treatments of 25$^{\circ}C$ and Sg for 30 min, 15$^{\circ}C$ and P for 60 min. and 25$^{\circ}C$ and P for 90 min. 4. Sixty minutes in C, P, S and Sg dilutors showed the highest difference. 5. 25$^{\circ}C$ of the temperature levels, 60 min of the time levels and P of the dilutor levels showed the highest difference. 6. The difference was given due to the individual boar.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.105-110
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• 2022

The microdeletion syndrome of chromosome 2p15p16.1 (MIM: 612513) is an extremely rare contiguous gene deletion syndrome. Microdeletions of varying sizes in the 2p15-16.1 region are associated with developmental delay, intellectual disability, autism spectrum disorder, hypotonia, and craniofacial dysmorphism. Previous studies have identified two critical regions: the proximal 2p15 and distal 2p16.1 regions. BCL11A, PAPOLG, and REL genes play crucial roles in patients with 2p16.1 microdeletion. To our knowledge, only 39 patients have been reported as having 2p15p16.1 microdeletion syndrome. Here, we present another patient with 2p15p16.1 microdeletion syndrome. A nine-month-old boy was referred to our clinic for the psychomotor delay, facial dysmorphism, and congenital hypothyroidism. During his follow-up visits, he was diagnosed with global developmental delay, intellectual disability, abnormal behavior, hypotonia, microcephaly, and abnormal electroencephalography. Using a chromosomal microarray for genetic analysis, a novel, de novo, 622 kb microdeletion of 2p16.1 was identified as one of the critical regions of the 2p15p16.1 microdeletion syndrome. This is the first case of its kind in Korea. We have discussed our case and literature reviews to clarify the relationship between the genes involved and clinical phenotypes in 2p15p16.1 microdeletion syndrome.

• Korean Journal of Ichthyology
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• v.9 no.2
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• pp.228-234
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• 1997

This study was carried out to confirm the taxonomical status by comparison of morphological and chromosomal charateristics and cross breeding in the two types of black and yellow body color of Korean mandarin fish, Siniperca sherzeri from Han River, Korea. Black and yellow types of Korean mandarin fish were similar in having 90-98 lateral line scale pores, 13 dorsal fin rays and XII XIII spines, 9 anal fin rays and 15 pectoral fin rays, but yellow type was differ from blacks type by yellow body color pattern. Diploid chromosome and arm number (fundamental number, NF) of the two types were the same to 2n=48 and NF=52. Karyotypes in the two types are consisted of 2 pairs submetacentric chromosome and 22 pairs of acro and/or telocentric chromosome. The black type females of Siniperca scherzeri were artificially crossed with yellow type males and black type males, respectively. The progenies from each cross breeding produced the normal individuls that possessed with parent types in the body color pattern. These data suggest that two types of Korean mandarin fish were same species, and yellow type was mutant by albino.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.3
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• pp.1119-1123
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• 2014

Head and neck cancers (HNC) are extremely complex disease types and it is likely that chromosomal instability is involved in the genetic mechanisms of its genesis. However, there is little information regarding the background levels of chromosome instability in these patients. In this pilot study, we examined spontaneous chromosome instability in short-term lymphocyte cultures (72 hours) from 72 study subjects - 36 newly diagnosed HNC squamous cell carcinoma patients and 36 healthy ethnic controls. We estimated chromosome instability (CIN) using chromosomal aberration (CA) analysis and nuclear level anomalies using the Cytokinesis Block Micronucleus Cytome Assay (CBMN Cyt Assay). The proliferation rates in cultures of peripheral blood lymphocytes (PBL) were assessed by calculating the Cytokinesis Block Proliferation Index (CBPI). Our results showed a significantly higher mean level of spontaneous chromosome type aberrations (CSAs), chromatid type aberration (CTAs) dicentric chromosomes (DIC) and chromosome aneuploidy (CANE UP) in patients (CSAs, $0.0294{\pm}0.0038$; CTAs, $0.0925{\pm}0.0060$; DICs, $0.0213{\pm}0.0003$; and CANE UPs, $0.0308{\pm}0.0035$) compared to controls (CSAs, $0.0005{\pm}0.0003$; CTAs, $0.0058{\pm}0.0015$; DICs, $0.0005{\pm}0.0003$; and CANEUPs, $0.0052{\pm}0.0013$) where p<0.001l. Similarly, spontaneous nuclear anomalies showed significantly higher mean level of micronuclei (MNi), nucleoplasmic bridges (NPBs) and nuclear buds (NBUDs) among cases (MNi, $0.01867{\pm}0.00108$; NPBs, $0.0156{\pm}0.00234$; NBUDs, $0.00658{\pm}0.00068$) compared with controls (MNi, $0.00027{\pm}0.00009$; NPBs, $0.00002{\pm}0.00002$; NBUDs, $0.00011{\pm}0.00007$).The evaluation of CBPI supported genomic instability in the peripheral blood lymphocytes showing a significantly lower proliferation rate in HNC patients ($1.525{\pm}0.005552$) compared to healthy subjects ($1.686{\pm}0.009520$) (p<0.0001). In conclusion, our preliminary results showed that visible spontaneous genomic instability and low rate proliferation in the cultured peripheral lymphocytes of solid tumors could be biomarkers to predict malignancy in early stages.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.10
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• pp.1402-1405
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• 2003

The QTL(quantitative traits loci) linkage mapping of Hanwoo (Korean Cattle) chromosome 6 for daily gain and marbling score was performed using 378 individuals from 18 paternal half-sib families in Hanwoo. Hanwoo chromosome 6 were mapped to total length of 394.2 cM between 28 microsatellite loci using 36 microsatellite primers of BTA 6 linkage group. The QTL analysis for daily gain in Hanwoo showed 8 microsatellite loci (BM3026-5.66, EL03-5.58, BM4311-5.29, ILSTS035-4.50, BMS1242-4.37, BM1329-3.67, BM415-3.11, BMS2460-3.03) in larger than LOD score 3.0. Based on the QTL analysis for marbling score, LOD scores of 12 microsatellite loci (BM415-8.88, BM3026-7.15, ILSTS093-5.45, ILSTS035-4.91, EL03-4.69, BMS690-4.52, BM1329-4.43, BMS511-3.74, BMS1242-3.66, BMS518-3.65, BM4311-3.41, BMC4203-3.36) were found larger than 3.0.

• Environmental Mutagens and Carcinogens
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• v.21 no.2
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• pp.142-148
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• 2001

We studied adaptive response in CHL cells by benzidine dihydrochloride, a derivative of benzidine, which was a major mutagenic agent in dye industry. Chromosome aberration analysis was used for the identification of adaptive response to this mutagen. Adaptive and reactive doses were confirmed by cell proliferation rate curve. Cell proliferation rate curve was obtained from the mitotic indices of cells treated with various concentrations of benzidine dihydrochloride for 24 hours. Marked adaptive responses to benzidine dihydrochloride in the induction of chromosome aberration were observed in CHL cells by pre-treatment with low concentrations of benzidine dihydrochloride (0.0047 mg/$m\ell$ or 0.0094 mg/$m\ell$) for 24 hours following post-treatment with high concentrations (0.0187, 0.0375, 0.075, 0.15 mg/$m\ell$) for 24 hours. These adaptive responses were found mostly in the type of chromatid breaks and chromatid exchanges. There is no difference in these results between two adaptive doses, 0.0047 mg/$m\ell$ and 0.0094 mg/$m\ell$. The amount of adaptive response, however, was dependent on post-treatment doses.

• BMB Reports
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• v.33 no.2
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• pp.138-146
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• 2000

In eukaryotes, chromosomes undergo a series of complex and coordinated movements during cell division. The kinesin motor proteins, such as the chicken Chromokinesin, are known to bind DNA and transport chromosomes on spindle microtubles. We previously cloned a family of retrograde C-terminus kinesins in Caenorhabditis elegans that mediate chromosomal movement during embryonic development. Here we report the cloning of a C. elegans klp-12 cDNA, encoding an ortholog of chicken Chromokinesin and mouse KIF4. The KLP-12 protein contains 1609 amino acid and harbors two leucine zipper motifs. The insitu RNA hybridization in embryonic stages shows that the klp-12 gene is expressed during the entire embryonic development. The RNA interference assay reveals that, similar to the role of Chromokinesin, klp-12 functions in chromosome segregation. These results support the notion that during mitosis both types, the anterograde N-terminus kinesins such as KLP-12 and the retrograde C-terminus kinesins, such as KLP-3, KLP-15, KLP-16, and KLP-17, may coordinate chromosome assembly at the metaphase plate and chromosomal segregation towards the spindle poles in C. elegans.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• Management Science and Financial Engineering
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• v.15 no.1
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• pp.51-69
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• 2009

A network model and a Genetic Algorithm (GA) is proposed to solve the simultaneous estimation of the trip distribution and traffic assignment from traffic counts in the congested networks in a logit-based Stochastic User Equilibrium (SUE). The model is formulated as a problem of minimizing a non-linear objective function with the linear constraints. In the model, the flow-conservation constraints are utilized to restrict the solution space and to force the link flows become consistent to the traffic counts. The objective of the model is to minimize the discrepancies between two sets of link flows. One is the set of link flows satisfying the constraints of flow-conservation, trip production from origin, trip attraction to destination and traffic counts at observed links. The other is the set of link flows those are estimated through the trip distribution and traffic assignment using the path flow estimator in the logit-based SUE. In the proposed GA, a chromosome is defined as a real vector representing a set of Origin-Destination Matrix (ODM), link flows and route-choice dispersion coefficient. Each chromosome is evaluated by the corresponding discrepancies. The population of the chromosome is evolved by the concurrent simplex crossover and random mutation. To maintain the feasibility of solutions, a bounded vector shipment technique is used during the crossover and mutation.