• Journal of Genetic Medicine
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• v.13 no.1
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• pp.14-19
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• 2016

Purpose: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. Materials and Methods: The CGG repeats in the FMR1 genes of 1,408 women were analyzed by polymerase chain reaction and Southern blot analysis. To estimate the prevalence of expansion alleles, the individuals were divided into low risk and high risk group. Results: Within this population, 98.4% had normal alleles and 1.6% had abnormal alleles including intermediate (0.6%), premutation (0.5%), full mutation (0.1%), and hemizygous (0.4%) alleles. There were 2 premutation alleles (1:666, 95% confidence interval [CI] 1:250-1,776) in the low risk group and 5 premutation alleles (1:15, 95% 1:6-36) in the high risk group. There were 8 intermediate alleles (1:167, 95% CI 1:130-213) in the low risk group and 1 intermediate alleles (1:76, 95% CI 1:11-533) in the high group. Six of the 7 premutation alleles did not contain AGG interruptions within the repeats and 1 had a single AGG interruption. Four of the 9 intermediate alleles contained 2-3 AGG, 4 had a single AGG, and 1 had no AGG interruptions. Conclusion: Our study demonstrates the prevalence and CGG/AGG structure of expansion alleles in Korean women. The identified premutation prevalence is higher than that of other Asian populations and lower than that of Caucasian populations. Although our study is limited by size and population bias, our findings could prove useful for genetic counseling of preconceptional or pregnant women.

• Molecules and Cells
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• v.25 no.3
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• pp.407-416
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• 2008

Thirteen near-isogenic lines (NILs) of japonica rice were developed via a backcross method using the recurrent parent Chucheong, which is of good eating quality but is susceptible to Magnaporthe grisea, and three blast resistant japonica donors, Seolak, Daeseong and Bongkwang. The agro-morphological traits of these NILs, such as heading date, culm length, and panicle length, were similar to those of Chucheong. In a genome-wide scan using 158 SSR markers, chromosome segments of Chucheong were identified in most polymorphic regions of the 13 NIL plants, and only a few chromosome segments were found to have been substituted by donor alleles. The genetic similarities of the 13 NILs to the recurrent parent Chucheong averaged 0.961, with a range of 0.932-0.984. Analysis of 13 major blast resistance (R) genes in these lines using specific DNA markers showed that each NIL appeared to contain some combination of the four R genes, Pib, Pii, Pik-m and Pita-2, with the first three genes being present in each line. Screening of nine M. grisea isolates revealed that one NIL M7 was resistant to all nine isolates; the remaining NILs were each resistant to between three and seven isolates, except for NIL M106, which was resistant to only two isolates. In a blast nursery experiment, all the NILs proved to be more resistant than Chucheong. These newly developed NILs have potential as commercial rice varieties because of their increased resistance to M. grisea combined with the desirable agronomic traits of Chucheong. They also provide material for studying the genetic basis of blast resistance.

• Proceedings of the Korean Vacuum Society Conference
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• 2013.08a
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• pp.273-273
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• 2013

Recently, Point-of-care (POC) testing microdevices enable to do the patient monitoring, drug screening, pathogen detection in the outside of hospital. Immunochromatographic strip (ICS) is one of the diagnostic technologies which are widely applied to POC detection. Relatively low cost, simplicity to use, easy interpretations of the diagnostic results and high stability under any circumstances are representative advantages of POC diagnosis. It would provide colorimetric results more conveniently, if the genetic analysis microsystem incorporates the ICS as a detector part. In this work, we develop a reverse transcriptase-polymerase chain reaction (RT-PCR) microfluidic device integrated with a ROSGENE strip for colorimetric influenza H1N1 virus detection. The integrated RT-PCR- ROSGENE device is consist of four functional units which are a pneumatic micropump for sample loading, 2 ${\mu}L$ volume RT-PCR chamber for target gene amplification, a resistance temperature detector (RTD) electrode for temperature control, and a ROSGENE strip for target gene detection. The device was fabricated by combining four layers: First wafer is for RTD microfabrication, the second wafer is for PCR chamber at the bottom and micropump channel on the top, the third is the monolithic PDMS, and the fourth is the manifold for micropump operation. The RT-PCR was performed with subtype specific forward and reverse primers which were labeled with Texas-red, serving as a fluorescent hapten. A biotin-dUTP was used to insert biotin moieties in the PCR amplicons, during the RT-PCR. The RT-PCR amplicons were loaded in the sample application area, and they were conjugated with Au NP-labeled hapten-antibody. The test band embedded with streptavidins captures the biotin labeled amplicons and we can see violet colorimetric signals if the target gene was amplified with the control line. The off-chip RT-PCR amplicons of the influenza H1N1 virus were analyzed with a ROSGENE strip in comparison with an agarose gel electrophoresis. The intensities of test line was proportional to the template quantity and the detection sensitivity of the strip was better than that of the agarose gel. The test band of the ROSGENE strip could be observed with only 10 copies of a RNA template by the naked eyes. For the on-chip RT-PCR-ROSGENE experiments, a RT-PCR cocktail was injected into the chamber from the inlet reservoir to the waste outlet by the micro-pump actuation. After filling without bubbles inside the chamber, a RT-PCR thermal cycling was executed for 2 hours with all the microvalves closed to isolate the PCR chamber. After thermal cycling, the RT-PCR product was delivered to the attached ROSGENE strip through the outlet reservoir. After dropping 40 ${\mu}L$ of an eluant buffer at the end of the strip, the violet test line was detected as a H1N1 virus indicator, while the negative experiment only revealed a control line and while the positive experiment a control and a test line was appeared.

• Korean Journal of Plant Resources
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• v.34 no.4
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• pp.278-286
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• 2021

Efficient in vitro regeneration system is essential for the successful crop breeding of soybean (Glycine max (L.) Merr.) using the new biotechnology. The genotype of donor plants strongly influences the establishment of tissue culture system. Therefore, the screening of genotypes with excellent tissue culture ability is very important for soybean genetic improvement. In this study, we report the tissue culture efficiency of 21 soybean cultivars belong to Korean soybean core-collection and two foreign cultivars (Jack and Maverick). The Kwangan, Anpyeong and Seonam are share close genetic relationship in 21 cultivars and these three cultivars were observed the high frequency of germination and regeneration. Furthermore, the high tissue culture abilities were also observed in the Williams 82 used in reference genome sequencing and the two foreign cultivars. The transformation of pBAtc:tRNA with bar gene was performed by Agrobacterium tumefaciens in the cultivars with high tissue culture ability. Transformation of the bar gene was identified by PCR analysis in Kwangan, Pungwon, Seonam, and Maverick. Our results provide useful information for the breeding of various soybean cultivars by plant biotechnology such as, genome editing.

• Journal of Korean Society of Occupational and Environmental Hygiene
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• v.31 no.3
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• pp.213-225
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• 2021

Objectives: This study identifies the trends in possible and probable occupational disease among chromium workers and reviews the literature on domestic and foreign chromium workers to review the industries, biological exposure levels, and major results. Methods: The results of the Ministry of Employment and Labor's special health-screening program for hazard agents among workers from 2009 to 2019 were used. Also, the industries, biological exposure levels, and major results on chromium workers were reviewed using PubMed and RISS. Results: The average annual proportion of both possible and probable occupational disease for chromium workers has recently increased. The average annual proportion of possible and probable occupational disease that can occur was high for both men and women in their 60s or older by age and 10 to 14 years by work duration. By industry, possible occupational disease showed high in manufacturing. In the literature review, many electroplating-related chromium-workers reported high levels of exposure to blood and urine chromium, as did dental technicians; tannery, tile factory or glass mill workers; cement workers; and sodium bichromate workers. Furthermore, a number of main findings in recent studies have reported that chromium exposure is related to genetic toxicity among workers. Conclusions: In this study, the average annual rate of both possible and probable occupational disease in domestic chromium workers is increasing, and a body of literature shows that chromium exposure is related to genetic toxicity and associated indicators among workers, which requires more systematic study.

• Journal of the Korean Society of International Agriculture
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• v.23 no.5
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• pp.491-496
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• 2011

Breeding for pear resistance to pear psylla (Cacopsylla pyricola) is one of important objective of the National Institute of Horticultural and Herbal Science breeding program. One hundred thirty three accessions from 15 Asian, Chinese and European pear species were investigated for their resistance against pear psylla. The pear psylla resistance was determined based on the following four characteristics: overwintering adult population, the number of eggs and nymphs, and the degree of soot. The different pear species showed varied resistance to pear psylla. Pyrus calleryana and P. betulaefolia indicated the highest antixenosis as ovipositional preference and antibiosis as nymphal feeding and were the most resistant genetic resources. Likewise the European pears (P. communis), 'Conference' and 'Cascade', exhibited little occurrence and damage by pear psylla. These were proved to be promising genetic materials for breeding resistant cultivars because they had good fruit quality and showed resistance to pear paylla. The observed population of overwintering adult, the number of eggs and nymphs of psylla had significant correlation each other.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.37-42
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• 2024

Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by decreased cortisol secretion, with 21-hydroxylase deficiency being the most common type. It is uncommon for CAH to present primarily as cholestasis; therefore, when a patient presents with prolonged jaundice, it is difficult to suspect CAH immediately. In this report, we aim to share our experience with an exceptional case of 21-hydroxylase deficiency. A 28-day-old male visited the outpatient clinic due to prolonged jaundice and elevated 17α-hydroxyprogesterone (17-OHP) levels in the newborn screening test. Since he showed no other symptoms such as lethargy or vomiting, he underwent a routine blood test for jaundice and a retest of 17-OHP at the outpatient clinic. Two hours after the blood draw, he was found to have severe hyponatremia and hyperkalemia, so he was immediately admitted to the intensive care unit. After treatment with hydrocortisone, fludrocortisone, sodium chloride, and intravenous fluids, the cholestasis and electrolyte imbalances improved over time. He was diagnosed with 21-hydroxylase deficiency, salt-wasting type, which was confirmed by the ACTH stimulation test and genetic testing. It is important to make a prompt diagnosis of CAH to avoid missing critical timing. Therefore, CAH should not be overlooked, even if the patient does not exhibit typical symptoms.

• Animal cells and systems
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• v.3 no.2
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• pp.229-236
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• 1999

The recA gene plays a central role in genetic recombination and SOS DNA repair in Escherichia coli (E. coli). We have previously identified a 42 kDa RecA-like protein inducible by a variety of DNA damages from a fluorescent Pseudomonas strain sp. and characterized its inducible kinetics. In the present study, we cloned and characterized the gene encoding the RecA-like protein by immunological screening of Pseudomonas genomic expression library using polyclonal E. coli anti-RecA antibodies as a probe. From 10$^{5}$ plaques screened, five putative clones were finally isolated. Southern blot analysis indicated that four clones had the same DNA inserts and the recA-like gene was located within the 3.2 kb EcoRI fragment of Pseudomonas chromosomal DNA. In addition, the cloned recA-like gene was transcribed into an RNA transcript approximately 1.1 kb in size, as judged by Northern blot analysis. The cellular level of RNA transcript of the cloned recA-like gene was increased to an average of 5.15- fold upon treatment with DNA damaging agents such as ultraviolet (UV)- light, nalidixic acid (NA), methyl methanesulfonate (MMS), and mitomycin-C (MMC). These results suggest that the cloned gene is inducible by DNA damage similarly to the recA gene in E. coli. However, the cloned gene did not restore the DNA damage sensitivity of the E. coli recA-mutant.

• Journal of Korean Society of Forest Science
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• v.74 no.1
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• pp.29-36
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• 1986

A method isolating Populus euramericana cv. I-214 mesophyll protoplasts was developed to facilitate application of genetic engineering techniques to this species. The suitable medium for shoot multiplication in vitro was MS basal medium with $0.1mg/{\ell}$ BAP. The effects of several factors influencing protoplast isolation could be evaluated quickly by using leaf in vitro and known volumes of maceration and washing media. The best yields of mesophyll protoplasts were obtained using leaves in vitro in 2.0% Cellulase R-10, 0.8% Macerozyme R-10, 1.2% Hemicellulase, 2.0% Driselase, 0.05% Pectolyase Y-23, and O.6M Mannitol in addition to DTT and MES buffer adjusted to pH 5.6. Over $2.4{\times}10^6$ protoplasts per gram of leaf were produced using these conditions. For protoplast purification, the most favorable sucrose concentration of floating solution was 0.6M after washing them with CPW solution. This method of screening factors affecting protoplast isolation could be applicable to other species.

• 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.