• Asian Pacific Journal of Cancer Prevention
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• 제16권8호
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• pp.3505-3508
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• 2015

Background: Ras genes are thought to play an important role in human cancer since they have been found to be activated frequently in several types of tumors including breast cancer, where the overall incidence of K-RAS oncogene activation is 0-10%. Evaluation of K-RAS gene not only for mutational frequency but also for mutation types in this downstream signaling gene pathway is necessary to determine the mechanisms of action. The present study was conducted to test the hypothesis that K-RAS activation is involved in breast cancer risk of south Indian population. Materials and Methods: A total of 70 paired pathologically confirmed tumor and non-tumor tissues from the same breast cancer patients were analysed for most common K-RAS mutations of codon 12,13 and 61 by polymerase chain reaction followed by restriction digestion and direct nucleotide sequencing method. Results: We found that a high rate of homozygous and heterozygous mutations of codon 12, but not codon 13 and 61, may influence the invasive ductal carcinoma of breast risk in this study. Conclusions: Our study indicated that only codon 12 may be involved in initiating breast carcinogenesis in India.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.103-106
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• 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.37-40
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• 2016

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.

• Asian Pacific Journal of Cancer Prevention
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• 제14권9호
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• pp.5449-5454
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• 2013

Background: A large variety of familiar and non-familiar lung carcinomas (LC) are caused by long term exposure to chemical carcinogens that are present in tobacco smoke. We aimed to investigate the prevalence of 5 thrombophilic germ-line mutations in patients with lung carcinomas. Materials and Methods:A total of 52 LC patients and 212 healthy controls from same population were analyzed for FV Leiden, factor V H1299R (R2), PAI-1, MTHFR C677T, MTHFR A1298C, ACE I/D, and Apo E genes and compared. Results: Overall, heterozygous and/or homozygous point mutations in FV Leiden Apo E2, PAI-1 and MTHFR C677T genes were associated with LC in the current cohort. There was no meaningful association between LC and ACE I/D gene markers. Conclusions: The current results showed that LC is related to combined thrombophilic gene mutations and individuals with homozygosity of 4G in PAI-1 and MTHFR C677T genes and heterozygosity of FV Leiden, Apo E4 genes have a germ-line risk for LC tumorigenesis.

• Journal of Plant Biotechnology
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• 제5권1호
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• pp.51-57
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• 2003

Doubled haploids have long been recognized as a valuable tool in plant breeding since it not only offers the quickest method of advancing heterozygous breeding lines to homozygosity, but also increased the selection efficiency over conventional procedures due to better discrimination between genotypes within any one generation. Salt tolerant mutants were obtained in rice the variety, 'Hawsungbyeo', through in vitro mutagenesis of in vitro cultured anther-derived calli. Various doses (30, 50, 70 and 90 Gy) of gamma ray were applied to investigate the effect of radiation on callus formation on medium containing 1% NaCl, green plant regeneration, frequency of selected doubled haploid mutants and of the salt tolerant screen. It was demonstrated that the dose of 30 and 50 Gy gamma rays had significant effects on callus formation, regeneration and selection of salt tolerance. No tolerant lines were obtained from non-mutagenized cultures. From gamma ray irradiated cultures, five tolerant lines ($M_2$generation) at germination stage and 13 tolerant lines ($M_3$genoration) at seedling stage were obtained. The frequency of salt tolerant mutants indicates that anther culture applied in connection with gamma rays is an effective way to improve salt tolerance.

• Molecules and Cells
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• 제38권5호
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• pp.426-431
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• 2015

Odin has been implicated in the downstream signaling pathway of receptor tyrosine kinases, such as the epidermal growth factor and Eph receptors. However, the physiologically relevant function of Odin needs to be further determined. In this study, we used Odin heterozygous mice to analyze the Odin expression pattern; the targeted allele contained a ${\beta}$-geo gene trap vector inserted into the 14t intron of the Odin gene. Interestingly, we found that Odin was exclusively expressed in ependymal cells along the brain ventricles. In particular, Odin was highly expressed in the subcommissural organ, a small ependymal glandular tissue. However, we did not observe any morphological abnormalities in the brain ventricles or ependymal cells of Odin null-mutant mice. We also generated BAC transgenic mice that expressed the PTB-deleted Odin (dPTB) after a floxed GFP-STOP cassette was excised by tissue-specific Cre expression. Strikingly, Odin-dPTB expression played a causative role in the development of the hydrocephalic phenotype, primarily in the midbrain. In addition, Odin-dPTB expression disrupted proper development of the subcommissural organ and interfered with ependymal cell maturation in the cerebral aqueduct. Taken together, our findings strongly suggest that Odin plays a role in the differentiation of ependymal cells during early postnatal brain development.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• 식물분류학회지
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• 제47권1호
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• pp.1-5
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• 2017

The population status of Hydrangea luteovenosa Koidz. in Korea was investigated, with an emphasis on its genetic diversity. From field surveys, we obtained the only locality record for a wild population in Jeju Island, which contained 285 individuals in total. Genotyping was performed using five microsatellite markers for the all extant plants in Korea. Three Japanese populations were also genotyped for the comparative analyses. The genotyping result showed that the Jeju population consisted of only two multilocus genotypes, including identical heterozygous genotypes at two loci; it had been maintained mostly by vegetative reproduction; and although the Jeju population is geographically far from Japanese populations, all alleles observed in the Korean population were shared with Japanese populations, suggesting the possibility that H. luteovenosa in the Jeju Island had been recently migrated or introduced from Japan. Future ecological and genetic studies associated with negative effects of low genetic variation will be essential for determining the conservation direction of the threatened Korean population of this species.

• 한국환경과학회지
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• 제8권5호
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• pp.569-574
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• 1999

This study was carried out to determine the antimutagenic effects of genistein on the somatic mutagenicity induced by aflatoxin B1 (${AFB}_1$), using Drosophila wing spot test system. Mutagen alone or mutagen with genistein were administered to the heterozygous(mwh/+) third instar larvae by feeding, and somatic cell mutations were detected in adult fly wing hairs. Genistein did not show any mutagenicity with the feeding concentrations of 5~15% in the test system. As the feeding concentrations of genistein increased, genistein inhibited the mutagenicity induced by AFB1 (14.6%~62.2% inhibition rate), while as the concentrations of AFB1 increased, small much spots that arise mostly from chromosome deletion and nondisjunction were more strongly suppressed by genistein than the large mwh spots from chromosomal recombination. In each group of different AFB1 concentrations, the rate of inhibition for total mwh spots was dependent on the dose of genistein. These results indicate that genistein have inhibitory effect on the mutagenicity induced by a mtagen, ${AFB}_1$. It seems to suggest that genistein may exert inhibitory effects to mutagenic and/or carcinogenic properties of DNA damaging agents.

• Journal of Microbiology and Biotechnology
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• 제13권2호
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• pp.317-320
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• 2003

Genome-wide systematic deletion mutants were generated using a PCR-based targeted mutagenesis of Schizosacchaaromyces pombe. In a drug-sensitivity assay using thiabendazole(TBZ), an inhibitor of microtubule assembly, a heterozygous nda2 mutant ($nda2^+/nda2^-$), deleting one copy of nda2 encoding the microtubule subunit alpha1 demonstrated a distinct sensitivity to TBZ, indicating TBZ-induced haploinsufficiency. This result suggests that profiling drug-induced haploinsufficiency can be exploited to identify target genes for drugs and discover new drugs.