• Journal of Genetic Medicine
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• 제2권2호
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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.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.124-127
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• 2013

Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency of BRCA1/2 germ line mutations varies according to region and ethnicity from 1.1-39.7 percent. The identification of ovarian cancers with a BRCA mutation is will be more and important due to the possibility to offer a genetic counseling and also due to potential beneficial treatment effects with a poly-ADP-ribose polymerase inhibitor in some individuals. We report the case of a 41 year old woman with a stage Ic mucinous ovarian adenocarcinoma and carrier daughter found on family genetic counseling. We indentified other family members with a history of breast cancer of 1st degree and pancreatic cancer of 2nd degree relative. After a screening with immunohistochemistry, the absence of nuclear expression for BRCA1 and BRCA2 was revealed. The gene sequencing confirmed heterozygous mutations of BRCA2 gene. The daughter of the case subject consented for a test. This test was shown the daughter is positive for BRCA2 mutation. Regular surveillance, chemoprophylaxis with oral contraceptive and prophylactic surgery after childbearing were offered to her.

• 한국산림과학회지
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• 제99권2호
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• pp.213-219
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• 2010

Early results from a field trail of Agathis loranthifolia are reported from a progeny test of 100 open-pollinated families in west Java, Indonesia. The average of height and diameter at root collar (DRC) was 40.18 cm and 0.52 cm at age 15 months. Family survival rate ranged from 86.5% at age 10 months to 81.7% at age 15 months. Family means of 10 best and 10 poorest families for each trait indicated that there was a large difference of growth performances among individual families. For height and DRC growth, the poorest groups had averages of 33.98 cm and 0.43 mm while the averages of the best groups were 47.35 cm and 0.62 mm at age 15 months as a difference of 39.36% and 43.65%, respectively. Differences between the best group and the test population mean, which is the selection differential, were implying that genetic gain from selection for the improvement of height and DRC growth would be achieved. The family variances of DRC and height were relatively small compared to replicate and residual variances. Family heritabilities for both studied traits were fluctuated, and the genetic coefficients of variation for DRC and height at age of 15 months were 7.19% and 5.22%, respectively.

• Biomolecules & Therapeutics
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• 제15권3호
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• pp.199-204
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• 2007

Carbamates have excellent insecticidal activities against a broad spectrum of insects. They possess knocking-down, fast-killing, and systemic effects, however, they are toxic to mammals. In this study, we have carried out in vitro genetic toxicity test of methylcarbamate and microarray analysis of differentially expressed genes in response to methylcarbamate. Methylcarbamate did not show mutations in base substitution strain TA1535 both with and without exogenous metabolic activation. Methylcarbamate did not show mutations in frame shift TA98 both with and without exogenous metabolic activation. Methylcarbamate showed DNA damage based on single cell gel/comet assay in L5178Y cells both with and without exogenous metabolic activation. Methylcarbamate did not increase micronuclei in CHO cells both with and without exogenous metabolic activation. Microarray analysis of gene expression profiles in L5178Y cells in response to methylcarbamate selected differentially expressed 132 genes that could be candidate biomarkers of genetic toxic action of methylcarbamate.

• Biomolecules & Therapeutics
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• 제14권4호
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• pp.246-252
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• 2006

1,2-Dibromoethane(DBE) has been widely used as a soil fumigant, an additive to leaded gasoline and an industrial solvent. In this study, we have carried out in vitro genetic toxicity test of 1,2-dibromoethane and microarray analysis of differentially expressed genes in response to 1,2-dibromoethane. 1,2-Dibromoethane showed mutations in base substitution strain TA1535 both with and without exogenous metabolic activation. 1,2-Dibromoethane showed mutations in frame shift TA98 both with and without exogenous metabolic activation. 1,2-Dibromoethane showed DNA damage based on single cell gel/comet assay in L5178Y cells both with and without exogenous metabolic activation. 1,2-Dibromoethane increased micronuclei in CRO cells both with and without exogenous metabolic activation. Microarray analysis of gene expression profiles in L5178Y cells in response to 1,2-dibromoethane selected differentially expressed 241 genes that would be candidate biomarkers of genetic toxic action of 1,2-dibromoethane.

• Asian-Australasian Journal of Animal Sciences
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• 제31권6호
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• pp.804-811
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• 2018

Objective: Complete mtDNA D-loop sequences of four Thai indigenous chicken varieties, including Pra-dhu-hang-dam (PD), Leung-hang-khao (LK), Chee (CH), and Dang (DA) were explored for genetic diversity and relationships with their potential ancestor and possible associates to address chicken domestication in Thailand. Methods: A total of 220 complete mtDNA D-loop sequences of the four Thai indigenous chicken varieties were obtained by Sanger direct sequencing of polymerase chain reaction amplicons of 1,231 to 1,232 base pair in size. A neighbor-joining dendrogram was constructed with reference complete mtDNA D-loop sequences of Red Junglefowl (RJF) and those different chicken breeds available on National Center for Biotechnology Information database. Genetic diversity indices and neutrality test by Tajima's D test were performed. Genetic differences both within and among populations were estimated using analysis of molecular variance (AMOVA). Pairwise fixation index ($F_{ST}$) was conducted to evaluated genetic relationships between these varieties. Results: Twenty-three identified haplotypes were classified in six haplogroups (A-E and H) with the majority clustered in haplogroup A and B. Each variety was in multiple haplogroups with haplogroups A, B, D, and E being shared by all studied varieties. The averaged haplotype and nucleotide diversities were, respectively 0.8607 and 0.00579 with non-significant Tajima's D values being observed in all populations. Haplogroup distribution was closely related to that of RJF particularly Gallus gallus gallus (G. g. gallus) and G. g. spadiceus. As denoted by AMOVA, the mean diversity was mostly due to within-population variation (90.53%) while between-population variation (9.47%) accounted for much less. By pairwise $F_{ST}$, LK was most closely related to DA ($F_{ST}=0.00879$) while DA was farthest from CH ($F_{ST}=0.24882$). Conclusion: All 4 Thai indigenous chickens are in close relationship with their potential ancestor, the RJF. A contribution of shared, multiple maternal lineages was in the nature of these varieties, which have been domesticated under neutral selection.

• 한국해양바이오학회지
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• 제11권2호
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• pp.52-61
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• 2019

Over the past few decades, microalgae-based biotechnology conjugated with innovative CRISPR/Cas9-mediated genetic engineering has been attracted much attention for the cost-effective and eco-friendly value-added compounds production. However, the discharge of reproducible living modified organism (LMO) into environmental condition potentially causes serious problem in aquatic environment, and thus it is essential to assess potential environmental risk for human health. Accordingly, in this study, we monitored discharged genetically modified microalgae (GMM) near the research complex which is located in Daejeon, South Korea. After testing samples obtained from 6 points of near streams, several green-colored microalgal colonies were detected under hygromicin-containing agar plate. By identification of selection marker genes, the GMM was not detected from all the samples. For the lab-scale environmental risk assessment of GMM, acute toxicity test using rotifer Brachionus calcyflorus was performed by feeding GMM. After feeding, there was no significant difference in mortality between WT and transformant Chlamydomonas reinhardtii. According to further analysis of horizontal transfer of green fluorescence protein (GFP)-coding gene after 24 h of incubation in synthetic freshwater, we concluded that the GFP-expressed gene not transferred into predator. However, further risk assessments and construction of standard methods including prolonged toxicity test are required for the accurate ecological risk assessment.

• 대한간호학회지
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• 제33권8호
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• pp.1083-1092
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• 2003

Purpose. The purpose of the study was to assess the level of nurses' genetic knowledge and the perception of nurses' role in genetics. The ultimate goal of this paper is to educate practicing nurses so that they can counsel individuals and families with genetic problems, on the basis of better understanding of genetic diseases. Methods. A total of 969 clinical nurses in 11 general hospitals completed a self-administered questionnaire including basic genetic knowledge and perception of their role. The instruments were made by the author with the help of some experts on genetics. T-test, ANOVA, and Pearson Correlation were used to analyze the data. Results. The results of this study indicated that nurses revealed a vast knowledge deficit in genetics and the need for genetic content in nursing curriculum. The results also showed that nurses' sources of information about genetics largely came from the mass media. The nurses also expressed great interest in educating and counseling patients. Overall, the survey found a positive correlation between the nurses' level of knowledge and their degree of interest in genetics. Conclusion. In conclusion, education and training of clinical nurses in genetics is critical in integrating genetics with nursing science. Therefore, the development of educational programs for nursing knowledge and counseling as well as basic curriculums in genetic nursing at universities are essential in the near future.

• Journal of Korean Biological Nursing Science
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• 제16권2호
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• pp.69-79
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• 2014

Purpose: The purpose of this descriptive, cross-sectional study was to examine Korean undergraduate nursing students' perceived knowledge and attitudes toward genetics. Nursing competencies for genetics among nursing students were also assessed. Methods: Two hundred eighty-six Korean junior and senior undergraduate nursing students who went through their clinical practicum completed a packet of self-report questionnaires exploring opinions about the integration of genetics into the nursing curriculum, as well as their perceived knowledge, attitudes, and nursing competencies toward genetics. Collected data were analyzed using descriptive statistics, t-test, one-way ANOVA. Results: Overall, Korean undergraduate nursing students reported limited genetic knowledge, but most of them were comfortable with drawing pedigree. In general, nursing students were competent in providing genetic nursing. Their genetic nursing competencies were significantly different depending on the level of general understanding of genetics. There was no significant difference between juniors and seniors regarding knowledge, attitudes, and competencies toward genetics. More than 60% of nursing students reported the need for genetic nursing, and the majority considered lectures to be the most effective method to learn genetic knowledge. Conclusion: It is imperative to integrate genetics into nursing curriculum in order to improve nursing students' genetic nursing competencies as well as genetic knowledge.

• Toxicological Research
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• 제22권4호
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• pp.423-429
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• 2006

Recent reports on the photocarcinogenicity and photogerotoxicity of many compounds led to an increasing awareness for the need of a standard approach to test for photogenotoxicity. The comet assay has been recently validated as a sensitive and specific test system for the quantification of DNA damage. Thus, the objectives of this study are to investigate the utility of photo-comet assay for detecting photo-mutagens, and to evaluate its ability to predict rodent photo-carcinogenicity. Photo-comet assays were performed using L5178Y $Tk^{+/-}$ mouse lymphoma cells on five test substances (8-methoxypsoralen, chlorpromazine, lomefloxacin, anthracene and retinoic acid) that demonstrated positive results in photocarcinogenicity tests. For the best discrimination between the test substance-mediated DNA damage and the undesirable DNA damage caused by direct UV absorption, a UV dose-response of the cells in the absence of the test substances was firstly fnalized. Out of 5 test substances, positive comet results were obtained for chlorpromazine, lomefloxacin, anthracene and retinoic acid while 8-methoxypsoralen found negative. An investigation into the predictive value of this photo-comet assay for determining the photocarcinogenicity showed that photo-comet assay has relatively high sensitivity. Therefore, the photo-comet assay with mammalian cells seems to be a good and sensitive predictor of the photocarcinogenic potential of new substances.