• Childhood Kidney Diseases
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• 제7권1호
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• pp.86-90
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• 2003

저자들은 출생시부터 지속된 육안적 오렌지색소변 결정체를 주소로 내원한 8개월된 남아에서 HPRT 유전자의 돌연변이에 의한 HPRT 부분결핍증 1례를 경험하였기에 이를 문헌고찰과 함께 보고한다.

• Childhood Kidney Diseases
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• 제26권2호
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• pp.107-110
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• 2022

Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the AVPR2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urinationand consumptionof a significant amount ofwater,which had begun2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an AVPR2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomaticX-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

• 한국통신학회논문지
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• 제27권12C호
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• pp.1215-1227
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• 2002

본 논문은 최단 경로 라우팅 문제의 해결을 위한 새로운 방식의 유전자 알고리즘(Genetic Algorithm)을 제안한다. 이를 위해 가변길이(variable-length) 염색체(chromosome) 구조와 그에 따른 유전자 부호화(genes coding) 기법을 설계하고, 부분 염색체(partial-chromosome)를 교환하는데 있어서 교차점(crossing-site)에 의존성이 없는 교배(crossover) 기법과 개체군(population)의 다양성(diversity)을 유지하는 돌연변이(mutation) 기법을 개발한다. 또한, 모든 부적합(infeasible) 염색체를 간단하게 치료할 수 있는 복구 함수(repair function)를 제안한다. 제안 교배 기법과 돌연변이 기법의 상호 동작은 제안 알고리즘이 개체군의 다양성을 유지하면서 해-표면(solution-surface)을 효과적으로 탐색할 수 있도록 하여 해의 최적성(optimality) 및 수렴(convergence) 속도의 향상을 도모한다. 제안 알고리즘에 의해 계산된 경로의 최적성은 유전자 알고리즘을 이용하는 기존의 알고리즘보다 우수하고, 수렴 속도도 빠르다는 것을 컴퓨터 시뮬레이션을 통해 확인한다. 이 결과는 대부분의 출발지와 도착지 쌍에 대해 기존의 유전자 알고리즘 기반의 최단 경로 라우팅 알고리즘에 비해 네트워크 토폴로지에 비교적 덜 민감한 것으로 나타난다.

• Journal of Microbiology and Biotechnology
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• 제6권3호
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• pp.219-220
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• 1996

The pKH2 isolated from the multidrug-resistant Staphylococcus aureus SA2 is a 40.98-kb plasmid and mediates resistance to ampicillin, clindamycin, erythromycin, kanamycin, and streptomycin. The 3.4-kb HindIII fragment conferring kanamycin resistance was cloned from the pKH2 into pBluescriptII $KS^+$ and partial sequence determination of that fragment was carried out. Sequence analysis revealed that the kanamycin resistance gene which encoded aminoglycoside 3'-phosphotransferase was linked to the streptothricin resistance gene. But a nonsense mutation was found in the streptothricin resistance gene and this mutation resulted in a truncated protein of streptothricin acetyltransferase. Homology comparison with nucleotide sequence databases revealed that the 3.4-kb HindIII fragment of pKH2 had been derived not from S. aureus but from Gram-negative Campylobacter coli.

• Journal of Microbiology
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• 제34권2호
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• pp.158-165
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• 1996

The signal transduction pathways through the RAS gene product and adenyl cyclease play a critical role in regulation of the cell cycle in yeast, Saccharomyces cerevisiae. We examined the genetic relationship between the spt3 gene and ras/cAMP pathway. A mutation in the SPT3 gene suppressed cell cycle arrest at the G1 phase caused by either an inactivation of the RAS or CYR1 gene which encodes a yeast homologue of human ras proto-oncogene or adenyl cyclase, respectively. The phenotypes such as sporulation and heat shock resistancy, that resulted from a partial inactivation of the RAS or CYR1 genes, were also suppressed by the spt3 mutation. Expression of the SSA1 gene encoding one of th heat shock proteins (Hsp70) can be induced by heat shock or nitrogen starvation. Expression of this gene is derepressed in cry1-2 and spt3 mutants. The bcy 1 mutation repressed by the bcy1 mutation, but not in spt3 mutants. These results suggest that the SPT gene is involved in expression of genes that are affected by the RAS/cAMP pathway.

• Horticulture, Environment, and Biotechnology : HEB
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• 제59권6호
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• pp.857-864
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• 2018

Previous studies have not detected transcripts of the gene encoding anthocyanidin synthase (ANS) in white pomegranates (Punica granatum L.) and suggest that a large-sized insertion in the coding region of the ANS gene might be the causal mutation. To elucidate the identity of the putative insertion, 3887-bp 5' and 3392-bp 3' partial sequences of the insertion site were obtained by genome walking and a gene coding for an expansin-like protein was identified in these genome-walked sequences. An identical protein (GenBank accession OWM71963) isolated from pomegranate was identified from BLAST search. Based on information of OWM71963, a 5.8-Mb scaffold sequence with genes coding for the expansin-like protein and ANS were identified. The scaffold sequence assembled from a red pomegranate cultivar also contained all genome-walked sequences. Analysis of positions and orientations of these genes and genome-walked sequences revealed that the 27,786-bp region, including the 88-bp 5' partial sequences of the ANS gene, might be translocated into an approximately 22-kb upstream region in an inverted orientation. Borders of the translocated region were confirmed by PCR amplification and sequencing. Based on the translocation mutation, a simple PCR codominant marker was developed for efficient genotyping of the ANS gene. This molecular marker could serve as a useful tool for selecting desirable plants at young seedling stages in pomegranate breeding programs.

• 한국임상약학회지
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• 제18권2호
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• pp.75-83
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• 2008

Purpose: Currently lung cancer ranks second in cancer for incidence rate and is a disease that ranks first for a death rate by cancerous growth because it is already advanced at the time of diagnosis. The purpose of this paper was to analyze the factors that affect the effectiveness of and rash occurrence by Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor (EGFR TKI) in patients with non-small cell lung cancer. Methods: A retrospective chart review of 100 patients, who took EGFR TKI (erlotinib, gefitinib) among patients who were diagnosed with non-small cell lung cancer in a Hospital in Korea between May 2005 and February 2008, was conducted. The drug effectiveness was evaluated by Response Evaluation Criteria In Solid Tumor. Results: EGFR mutation was the only factor associated with drug response (complete response and partial response). When stable disease was added to drug response as the evaluation parameter, ECOG and rash as well as EGFR mutation were found to be important factors. Survival, however, was not affected by EGFR mutation. The factors influenced on survival were older age (${\geq}65$), low ECOG ($1{\sim}2$), adenocarcinoma and rash. In the case of rash, group with EGFR mutation or low ECOG showed significantly higher chance of occurrence. There was no significant difference in rash occurrence between gefitinib and erlotinib groups. Conclusions: Based on the results, EGFR mutation positive and low ECOG ($1{\sim}2$) were significantly important factors for both effectiveness of EGFR TKI and rash occurrence. Also, rash itself was found to be an independently significant factor for the disease control and survival. Therefore, while administering EGFR TKI, patients who have the factors associated with rash occurrence should be closely monitored for effective and safe drug therapy.

• 생명과학회지
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• 제20권3호
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• pp.453-456
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• 2010

백혈병은 조혈모세포의 비정상적인 증식에 의해 일어나서 질환이고, adenosine deaminase (ADA) 유전자는 백혈병의 약물 작용점으로 중요하다. 이러한 연구의 일환으로 한국인 백혈병 환자 20명의 ADA 유전자의 변이를 조사하기 위해 혈액 genomice DNA를 추출하여 염기서열을 결정하였다. 그 결과 nonsense 변이인 F101F 하나, missense 변이 E260K, D8Y 각각 하나, 그리고 외국에서는 보고되지 않은 것으로 정상인에서 IVS6-52 에 GC가 도입된 것을 확인하였다. 백혈병 환자와 유전자 변이간에 통계학적인 차이점은 없지만 이러한 연구는 앞으로 백혈병의 진단 마크 개발에 도움이 될 것으로 사료된다.

• Clinical and Experimental Pediatrics
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• 제56권8호
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• pp.355-358
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• 2013

Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2 : (c.5256_5257delGA;p.Lys1753Alafs$^*34$). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.

• Asian Pacific Journal of Cancer Prevention
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• 제13권7호
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• pp.3431-3436
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• 2012

Objective: X-ray cross-complementing group 4 (XRCC4) is a major repair gene for DNA double-strand breaks (DSB) in the non-homologous end-joining (NHEJ) pathway. Several potentially functional polymorphisms of the XRCC4 gene have been implicated in breast cancer risk, but individually published studies showed inconclusive results. The aim of this meta-analysis was to investigate the association between XRCC4 polymorphisms and the risk of breast cancer. Methods: The MEDLINE, EMBASE, Web of science and CBM databases were searched for all relevant articles published up to June 20, 2012. Potential associations were assessed with comparisons of the total mutation rate (TMR), complete mutation rate (CMR) and partial mutation rate (PMR) in cases and controls. Statistical analyses were performed using RevMan 5.1.6 and STATA 12.0 software. Results: Five studies were included with a total of 5,165 breast cancer cases and 4,839 healthy controls. Meta-analysis results showed that mutations of rs2075686 (C>T) and rs6869366 (G>T) in the XRCC4 gene were associated with increased risk of breast cancer, while rs2075685 (G>T) and rs10057194 (A>G) might decrease the risk of breast cancer. However, rs1805377 (A>G), rs1056503 (G>T), rs28360317 (ins>del) and rs3734091 (A>G) polymorphisms of XRCC4 gene did not appear to have an influence on breast cancer susceptibility. Conclusion: Results from the current meta-analysis suggest that the rs2075685 (G>T) and rs6869366 (G>T) polymorphisms of the XRCC4 gene might increase the risk of breast cancer, whereas rs2075685 (G>T) and rs10057194 (A>G) might be protective factors.