• 대한임상검사과학회지
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• 제47권4호
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• pp.209-215
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• 2015

대장암은 우리나라에서 많이 발병하는 4대 암의 하나로써, 경제적인 발전을 통한 생활양식의 서구화 등으로 인해 매년 증가 추세에 있다. 따라서 대장암의 다양한 진단방법이 요구되고 있으며, 새로운 진단방법으로 가능한 Comparative Genomic Hybridization 실험을 하였다. 실험결과 Deletion은 5q (10%), 10q (17%), 17p (40%), 18p (23%), 18q (47%), 22q (23%)이며, 가장 많은 빈도로 관찰된 것은 18q, 17p, 22q로서 18q에서 47% (14/30)가, 17p에서 40% (12/30)가, 22q에서 23% (7/30)가 관찰되었다. Amplification은 염색체 6pq (10%), 7p (17%), 7q (33%), 8q (13%), 9pq (10%), 12q (17%), 13q (37%), 20p (23%), 20q (57%)부분에서 증폭이 보여졌다. 가장 많은 빈도로 관찰된 것은 20q, 13q, 7q로서 20q에서 57% (17/30)가, 13q에서 37% (11/30)가, 7q에서 33% (10/30)가 관찰되었다. 대장암의 위치에 따른 유전자 변이 양상은 우측 대장암이 평균 3.1개(증폭 1.7개, 결실 1.4개)인데 반해, 직장암은 평균 6.3개(증폭 3.7개, 결실 2.6개)로서 높았다(p<0.001). 림프절 전이에 따른 유전자 변이 양상은 전이가 없는 군에서는 평균 3.5개(증폭 2.2개, 결실 1.3개)인데 반해, 림프절 전이가 있는 군은 평균 6.3개(증폭 3.5개, 결실 2.8개)로서 높았다(p<0.003). 병기별에 따른 유전자 변이 양상은 I~II병기에서는 평균 3.5개(증폭 2.1개, 결실 1.4개)인데 반해, III~IV병기에서는 평균 6.0개(증폭 3.4개, 결실 2.6개)로서 높았다(p<0.006). 조직학적 분류에 따른 비교와 혈청 CEA 증가군에 대한 비교는 큰 차이가 없었다.

• Neonatal Medicine
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• 제16권1호
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• pp.76-80
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• 2009

저자들은 자궁 내 발육 지연으로 입원한 신새아가 요도하열, 잠복고환, 폐동맥판 협착이 동반되어 시행한 염색체 검사에서 불균형 전도로부터 재조합된 염색체이상의 결과로 8번 염색체 단완 결실과 장완 중복을 보인 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.133-141
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• 2007

목 적:임상증상으로 정신지체, 발육부진, 소두증 등으로 묘성 증후군(Cri du Chat syndrome, CdCs)으로 의뢰된 20명 환자와 부모를 포함한 분자 및 세포유전학적 결과를 분석하므로, 유전형과 표현형과의 상관관계를 고찰하고자 하였다. 방 법:환자와 부모에 대해 분자세포유전학적(FISH, CGH array)및 세포유전학적 분석을 시행하였고, 이와 함께 임상양상에 대한 비교분석을 시행하였다. 결 과:20명 환자에 대한 5p 결실 양상에 대한 분석 결과 del(5)(p14)이 9명(45%)로 가장 많았으며, del(5)(p13)이 7명(35%), del(5)(p15.1)(15%)이 3명, del(5)(p15.2)이 1명(5%) 순의 결실 양상을 확인하였다. 또한 4명(20%)에서는 5p 결실 외에 다른 염색체(6, 8, 18, 22번)의 결실과 중복이 있음이 확인 되었고, 이중 3명의 환자는 부모 중 한 사람의 균형적 전자에서 기원한 불균형 전자 유형이었다(기원은 부계 2명, 모계 1명). 그리고 5p 결실 부위와 다른 염색체 이상 공존 여부에 따라 매우 다양한 임상적 양상을 나타내었다. 결 론:이와 같이 묘성증후군 환자와 부모를 포함하는 5번 염색체 단완의 결실양상에 대한 분자 세포 유전학 분석에 의한 정확한 결실 부위의 확인과 다른 염색체 이상의 결손과 증폭의 공존 여부를 확인함으로써 유전형과 임상적 표현형과의 상관관계를 이해하는데 유용할 것이라 생각된다. 나아가 묘성 증후군 환자와 가족에 대한 효과적인 유전상담에 도움이 될 것이라 사료된다.

• Korean Journal of Radiology
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• 제24권2호
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• pp.133-144
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• 2023

Objective: Cyclin-dependent kinase inhibitor (CDKN)2A/B homozygous deletion is a key molecular marker of isocitrate dehydrogenase (IDH)-mutant astrocytomas in the 2021 World Health Organization. We aimed to investigate whether qualitative and quantitative MRI parameters can predict CDKN2A/B homozygous deletion status in IDH-mutant astrocytomas. Materials and Methods: Preoperative MRI data of 88 patients (mean age ± standard deviation, 42.0 ± 11.9 years; 40 females and 48 males) with IDH-mutant astrocytomas (76 without and 12 with CDKN2A/B homozygous deletion) from two institutions were included. A qualitative imaging assessment was performed. Mean apparent diffusion coefficient (ADC), 5th percentile of ADC, mean normalized cerebral blood volume (nCBV), and 95th percentile of nCBV were assessed via automatic tumor segmentation. Logistic regression was performed to determine the factors associated with CDKN2A/B homozygous deletion in all 88 patients and a subgroup of 47 patients with histological grades 3 and 4. The discrimination performance of the logistic regression models was evaluated using the area under the receiver operating characteristic curve (AUC). Results: In multivariable analysis of all patients, infiltrative pattern (odds ratio [OR] = 4.25, p = 0.034), maximal diameter (OR = 1.07, p = 0.013), and 95th percentile of nCBV (OR = 1.34, p = 0.049) were independent predictors of CDKN2A/B homozygous deletion. The AUC, accuracy, sensitivity, and specificity of the corresponding model were 0.83 (95% confidence interval [CI], 0.72-0.91), 90.4%, 83.3%, and 75.0%, respectively. On multivariable analysis of the subgroup with histological grades 3 and 4, infiltrative pattern (OR = 10.39, p = 0.012) and 95th percentile of nCBV (OR = 1.24, p = 0.047) were independent predictors of CDKN2A/B homozygous deletion, with an AUC accuracy, sensitivity, and specificity of the corresponding model of 0.76 (95% CI, 0.60-0.88), 87.8%, 80.0%, and 58.1%, respectively. Conclusion: The presence of an infiltrative pattern, larger maximal diameter, and higher 95th percentile of the nCBV may be useful MRI biomarkers for CDKN2A/B homozygous deletion in IDH-mutant astrocytomas.

• Asian-Australasian Journal of Animal Sciences
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• 제31권2호
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• pp.252-262
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• 2018

Objective: An experiment was conducted to evaluate dietary supplemental trace mineral source and deletion on mineral content in tissues. Methods: Weanling crossbred pigs (n = 144; 72 barrows and 72 gilts; body weight [BW] = $7.4{\pm}1.05kg$) were used. A basal diet was prepared, and trace mineral premix containing either inorganic (ITM) or organic (OTM) trace minerals (Cu, Fe, Mn, and Zn) was added to the basal diet. Pigs were blocked by sex and BW and randomly allotted to 24 pens for a total of 6 pigs per pen, and fed a diet containing either ITM or OTM supplemented at the 1998 NRC requirement estimates for each of 5 BW phases (Phase I to V) from 7 to 120 kg. The trace mineral supplementation was deleted for 6, 4, 2, and 0 wk of Phase V; regarding nutrient adequacy during this phase, the indigenous dietary Fe and Mn was sufficient, Cu was marginal and Zn was deficient. Results: At the end of Phase IV, Mn content (mg/kg on the dry matter basis) was greater (p<0.05) in heart (0.77 vs 0.68), kidney (6.32 vs 5.87), liver (9.46 vs 8.30), and longissimus dorsi (LD; 0.30 vs 0.23) of pigs fed OTM. The pigs fed OTM were greater (p<0.05) in LD Cu (2.12 vs 1.89) and Fe (21.75 vs 19.40) and metacarpal bone Zn (141.86 vs 130.05). At the end of Phase V, increased length of deletion period (from 0 to 6 wk) resulted in a decrease (linear, p<0.01) in liver Zn (196.5 to 121.8), metacarpal bone Zn (146.6 to 86.2) and an increase (linear, p<0.01) in heart Mn (0.70 to 1.08), liver Mn (7.74 to 12.96), and kidney Mn (5.58 to 7.56). The only mineral source by deletion period interaction (p<0.05) was observed in LD Zn. Conclusion: The results demonstrated differential effects of mineral deletion on tissue mineral content depending on both mineral assessed and source of the mineral.

• 대한골관절종양학회지
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• 제6권4호
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• pp.143-151
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• 2000

목적 : p53 종양억제 유전자는 사람의 암에서 변형이 가장 많이 발견되는 유전자로 유잉 육종에서 p53 유전자의 변형을 관찰하고자 하였다. 재료 및 방법 : 유잉육종 환자 35례의 파라핀 블록을 사용하였으며, 유전자의 결핍과 p53 유전자의 염기서열의 변형을 관찰하였다. 결과 : 정성적인 중합효소 연쇄반응을 이용한 p53의 4-9번까지의 유전자검사중 2례에서 동일성의 유전자 결핍이 관찰되었으며, exon 5-8의 유전자 중합효소 연쇄반응에서는 3례에서 missense 점돌연변이가 관찰되었다. 결론 : 이상의 결과로 p53은 유전적으로 적은 부분에서 유잉육종에 관여하는 것으로 관찰 되었다.

• International Journal of Oral Biology
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• 제42권2호
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• pp.79-83
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• 2017

Abnormal HLA-G expression occurs in various diseases such as melanoma, renal cell carcinoma, asthma, and classic Hodgkin's lymphoma. The purpose of this study was to determine whether HLA-G gene is linked with oral squamous cell carcinoma (OSCC). To investigate the possible link with susceptibility to OSCC, 54 OSCC patients and 120 healthy controls were enrolled in this study. HLA-G 14bp insertion/deletion polymorphism is in 3'-untranslated region of HLA-G gene. HLA-G 14bp insertion/deletion polymorphism was analyzed using the polymerase chain reaction (PCR) method. For the analysis of genetic data, SPSS18.0 program was used. Logistic regression models were performed for odds ratio (OR), 95 percent confidence interval (CI), and P value. There was a significant difference in distribution allele between OSCC patients and control subjects (OR=0.018, 95% CI=0.002-0.131, p<0.001). Our results suggest that HLA-G 14bp insertion/deletion polymorphism may be linked with susceptibility to OSCC in the Korean population.

• 생물정신의학
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• 제23권4호
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• pp.140-147
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• 2016

Objectives To determine the relationship between the Alu insertion/deletion (I/D) polymorphism in the tissue-type plasminogen activator (tPA) gene and the clinical outcome of mirtazapine treatment in Korean major depressive disorder (MDD) patients. Methods We enrolled 422 patients in this study. Symptoms were evaluated using the 21-item Hamilton Depression Rating (HAMD-21) Scale. After 1, 2, 4, and 8 weeks of mirtazapine treatment, the association between the Alu I/D polymorphism in the tPA gene and remission/response outcomes were evaluated. Results The proportion of I/I homozygotes in responders was higher than that in non-responders, whereas the proportion of D/D homozygotes in responders was lower than that in non-responders at 8 weeks of treatment (p = 0.032, OR = 1.57). The percentage decline of HAMD-21 scores in I allele carriers was larger than that of D/D homozygotes at 2 and 8 weeks of treatment (p = 0.035 and 0.007, respectively). I allele carriers were associated with remission at 8 weeks of treatment (p = 0.047, OR = 2.2). Conclusions These results show that treatment response and remission to mirtazapine were associated with the Alu I/D polymorphism of the tPA gene. This suggests the Alu I/D polymorphism may be a potential genetic marker for the prediction of therapeutic response to mirtazapine treatment in patients with MDD.

• Journal of Microbiology and Biotechnology
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• 제25권11호
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• pp.1827-1834
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• 2015

The SMG1 lipase from Malassezia globosa is a newly found mono- and diacylglycerol (DAG) lipase that has a unique lid in the loop conformation that differs from the common alpha-helix lid. In the present study, we characterized the contribution of three residues, L103 and F104 in the lid and F278 in the rim of the binding site groove, on the function of SMG1 lipase. Site-directed mutagenesis was conducted at these sites, and each of the mutants was expressed in the yeast Pichia pastoris, purified, and characterized for their activity toward DAG and p-nitrophenol (pNP) ester. Compared with wild-type SMG1, F278A retained approximately 78% of its activity toward DAG, but only 11% activity toward pNP octanoate (pNP-C8). L103G increased its activity on pNP-C8 by approximately 2-fold, whereas F104G showed an approximate 40% decrease in pNP-C8 activity, and they both showed decreased activity on the DAG emulsion. The deletion of 103-104 retained approximately 30% of its activity toward the DAG emulsion, with an almost complete loss of pNP-C8 activity. The deletion of 103-104 showed a weaker penetration ability to a soybean phosphocholine monolayer than wild-type SMG1. Based on the modulation of the specificity and activity observed, a pNP-C8 binding model for the ester (pNP-C8, N102, and F278 form a flexible bridge) and a specific lipid-anchoring mechanism for DAG (L103 and F104 serve as "anchors" to the lipid interface) were proposed.

• Asian Pacific Journal of Cancer Prevention
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• 제16권14호
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• pp.6155-6158
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• 2015

Background: The human leukocyte antigen-G (HLA-G) gene is highly expressed in cancer pathologies and is one strategy used by tumor cells to escape immune surveillance. A 14-bp insertion/deletion (InDel) polymorphism of the HLA-G gene has been suggested to be associated with HLA-G mRNA stability and the expression of HLA-G. The aim of present study was to assess any genetic association between this polymorphism and breast cancer among Iranian-Azeri women. Materials and Methods: In this study 227 women affected with breast cancer, in addition to 255 age-sex and ethnically matched healthy individuals as the control group, participated. Genotyping was performed using polymerase chain reaction and electrophoresis assays. The data were compiled according to the genotype and allele frequencies, compared using the Chi-square test. Statistical significance was set at P<0.05. Results: In this case-control study, no significant difference was found between the case and control groups at allelic and genotype levels, although there is a slightly higher allele frequency of HLA-G 14bp deletion in breast cancer affected group. However,when the stage I subgroup was compared with stage II plus stage III subgroup of affected breast cancer, a significant difference was seen with the 14 bp deletion allele frequency. The stage II-III subgroup patients had higher frequency of deletion allele (57.4% vs 45.8%) than stage I cases (${\chi}^2=4.16$, p-value=0.041). Conclusions: Our data support a possible action of HLA-G 14bp InDel polymorphism as a potential genetic risk factor for progression of breast cancer. This finding highlights the necessity of future studies of this gene to establish the exact role of HLA-G in progression steps of breast cancer.