• BMB Reports
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• 제29권1호
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• pp.92-97
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• 1996

The age-46.5 gene of Escherichia coli is induced by nitrate ion and regulated by Fnr, NarL, and NarP during anaerobic growth. aeg-46.5::lacZ fusion gene shows its maximum expression in narL host after two hours of aerobic to anaerobic switch in M9-Glc-nitrate medium. Fnr and NarP act as positive regulators, and NarL acts as a negative regulator. The control region of the aeg-46.5 was identified and the binding sites of regulator proteins have been predicted (Reznikoff and Choe (1993)). It has two symmetry regions. One is located at -52~-37 bp from the anaerobic mRNA 5'-end, which is the binding site of NarL and NarP. The other is located at +37~+56 bp from the 5'-end of mRNA. In this study, the downstream symmetry region from the mRNA 5'-end was investigated by site-directed mutagenesis. The destruction of the symmetry region increases the expression level of aeg-46.5. We propose that the symmetry region interferes with the expression of aeg-46.5 possibly by forming a stem-and-loop structure.

• Bulletin of the Korean Chemical Society
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• 제22권8호
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• pp.903-908
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• 2001

The gene aeg-46.5, which is expressed under anaerobic condition, has putative triple -10 regions and four transcription start sites. The mRNA transcription level and its start point change depending on the aerobic/anaerobic growth condition. RNA polymerase and its regulatory proteins must choose which of three -10 region to use. The putative triple 10 region was mutated to make only one of them function with consensus -10 region sequence (TATAAT) and the other two as non-functional region. The results show that the second and third -10 regions are used for the aerobic/anaerobic expression. The third -10 region is responsible for the high aerobic to anaerobic switch ratio. This suggests that only the last two of the putative triple -10 region have functions on aeg-46.5 gene expression switch control. The phenotype of the mutated promoter was tested in the wild type cell and narL - cell. The results indicate that the control by NarL is independent from the selection of -10 region. The expression patterns on multi-copy plasmids and on single-copy chromosome were compared. These results show that the aerobic/anaerobic switch control of aeg-46.5 is through the choice of -10 region. The mechanism of choosing different -10 region remains to be seen.

• 생물정신의학
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• 제13권3호
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• pp.170-177
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• 2006

Objectives : Disturbances of serotonergic system might be related to the possible mechanism of social phobia. This study was to investigate the association of serotonin transporter gene and social phobia. Methods : Sixty nine patients with social phobia(51 male(73.9%), mean age $35.17{\pm}11.89$ years) and seventy four normal controls(54 male(73.0%), mean age $33.46{\pm}9.63$ years) were tested for serotonin transporter gene-linked polymorphic region(5-HTTLPR) polymorphism. Additionally, patients were grouped into 46 generalized(GEN) and 23 nongeneralized(NGEN) subgroups and 5-HTTLPR polymorphism was compared with that of normal controls. The genotypes and allele frequencies of the 5-HTTLPR polymorphism between social phobia and the control group were compared. Genomic DNA was extracted from their blood and 5-HTTLPR polymorphisms were determined by using polymerase chain reaction. Results : Significant association was observed between the S(ss) genotype and social phobia, by functional classification(p=.010). In allele frequency analysis, a significant association was also observed between the short allele and social phobia(p=.030). A significant associations between S genotype and each subgroup were observed(GEN p=.045 ; NGEN p=.033), but there were no differences in allele frequency. And, no differences in genotype and allele distribution between two subgroups were found. Conclusion : The results in our Korean sample suggest that S genotype of 5-HTTLPR may be associated with social phobia and s allele may be an important genetic factor that activates social phobic symptoms. But, further studies including large number of samples are necessary to elucidate these present findings.

• 동의생리병리학회지
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• 제16권4호
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• pp.724-728
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• 2002

Angiotensin-converting enzyme (ACE) gene polymorphism, which consists of presence (insertion, I) or absence (deletion, D) of a 250-bp fragment, is associated with ischemic heart disease, renovascular disease, systemic lupus erythematosus. Subjects with the DD genotype have higher levels of circulating ACE than subjects with the II genotype and show an increased tendency towards vascular wall thickness and contribute to the development of vascular disease. But the association between I/D polymorphism of the ACE gene and cerebrovascular disease is still controversial. The aim of this study was to determine whether the DNA polymorphism of the ACE are associated with cerebrovascular disease in Korean population. The study group comprised 377 Korean patients admitted to Kyunghee Oriental Medical Center in the year of 2000 for the treatment of brain infarction or brain hemorrhage. Magnetic resonance imaging(MRI) was performed for each patient to determine the stroke phenotype, infarction or hemorrhage. The 183 subjects without evidence of brain infarction or brain hemorrhage were selected from the some ethnical population(control group). Venous blood samples were drawn from each subject for the extraction of DNA. Genotypes of ACE were determined by polymerase chain reaction amplification of the genomic DNA. Case and control genotype frequencies were compared by chi-square testing. Both the patients and the controls were classified respectively into 4 groups: age less than forty years, age forty one to fifty, age fifty one to sixty, age greater than sixty years. There were no significant differences in the distributions of ACE genotypes among the patients with infarction, with hemorrhage and controls (Infarction: D/D 15.8%, I/D 46.7%, I/I 37.5%, Hemorrhage: D/D 15.1%, I/D 46.5%, I/I 38.4%, Control: D/D 18.6%, I/D 50.3%, I/I 31.2%). There was a significant difference in the distribution of ACE genotypes between the age greater than sixty year subgroup of patient with brain hemorrhage and the control (Hemorrhage: D/D 0%, I/D 55.6%, I/I 44.4%, Control: D/D 13.0%, I/D 63.0%, I/I 23.9%; Pearson Chi-Square value 5.956, P<0.05). Furthermore, the frequency of the ACE D/D type declined with increasing age both in the patient and control group (Patient group: age < 50 D/D 21.5%, age > 50 D/D 14.42%; Control group: age < 50 D/D 21.0%, age > 50 D/D 14.2%). In conclusion there is no clear association between ACE polymorphism and cerebrovascular disease in Korean population. Although, there was a tendency for the frequency of the ACE D/D type declined with increasing age in both patients and controls.

• Genomics & Informatics
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• 제18권1호
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• pp.9.1-9.5
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• 2020

Ulcerative colitis is a form of inflammatory bowel disease characterized by chronic inflammation of the colon and rectum. The abnormal lesions in the digestive system caused by ulcerative colitis and intermittent colitis are of major clinical importance. MDM2 is a phospho-protein that functions as a ubiquitin ligase for p53. Recently, a T>G substitution in the promoter of the MDM2 gene (rs309) has been identified. In this case-control study, 174 ulcerative colitis biopsy samples and 82 control samples were collected from colonoscopy centers, hospitals, and clinics in Mazandaran and Gilan Provinces in Iran from October 2014 to May 2015. This MDM2 polymorphism was investigated in DNA samples (extracted from biopsy samples) by amplification-refractory mutation system polymerase chain reaction. The mean age of patients with ulcerative colitis was 46.5 years (range, 28 to 69 years) and that of control individuals was 45.3 years (range, 26 to 71 years). Seventy-eight patients (44.82%) were men and 96 (55.18%) were women. The distribution of the TT, TG, and GG genotypes was 17.93%, 27.59%, and 34.48%, respectively, in the ulcerative colitis patients and 31.70%, 24.40%, and 43.90%, respectively, in the control individuals (odds ratio of GG for ulcerative colitis, 7.142; 95% confidence interval, 2.400 to 9.542; p = 0.001). It was found that a single-nucleotide polymorphism at rs309 in the MDM2 gene was associated with ulcerative colitis. A direct relationship was found between age and ulcerative colitis, while no relationship was found with sex. This finding is of note because the occurrence of intestinal inflammation and subsequent ulcers can precede the development of cancer.

• Asian Pacific Journal of Cancer Prevention
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• 제16권1호
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• pp.83-86
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• 2015

Background: Diffuse large B-cell lymphoma (DLBCL) is the most common form of non-Hodgkins lymphoma (NHL), accounting for approximately 25% of NHL cases. The aim of this study was to evaluate the association between the BCL6 and MUM1 gene expression and patient prognosis and stage. Materials and Methods: After ethical approval, in a cross-sectional study, tissue samples of 80 patients with diffuse large B-cell lymphoma were analyzed for BCL6 and MUM1 gene expression. Immunohistochemical staining was performed with division into categories of 0-5%, 5-25%, 26-50%, 51-75% and more than 75%. Other clinical and histological information such as lymph node involvement, T-stage, B symptoms and patient outcome were also recorded. Data were analyzed with SPSS version 16 and a P-value less than 0.05 was considered significant. Results: The patient mean age was $46.9{\pm}10.5$ years ($47.6{\pm}10.7$ and $46.1{\pm}9.6$ for males and females, respectively). A significant association was seen between lymphoma stage and BCL6 (p=0.045) but not MUM1 expression (p=0.09). However, the latter was associated with mortality (p=0.006) as was also the BCL6 level (p=0.006). Conclusions: : Overexpression of MUM1 and BCL6 is associated with poor prognosis in patients with diffuse large B-cell lymphoma.

• Clinical and Experimental Reproductive Medicine
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• 제46권4호
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• pp.206-210
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• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• Asian Pacific Journal of Cancer Prevention
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• 제16권13호
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• pp.5557-5563
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• 2015

Background: Cholelithiasis is associated in 54%-98% of patients with carcinoma of the gallbladder, and a high incidence among females suggests a role of female hormones in the etiology of the disease. Cytochrome $P450C17{\alpha}$ (CYP-17) is a key enzyme involved in estrogen metabolism and polymorphisms in CYP-17 are associated with altered serum levels of estrogens. Thus, we investigated whether the CYP-17 MspA1 gene polymorphism might impact on risk of gall bladder cancers or gallstones, as well as to determine if this gene polymorphism might be linked with estrogen serum levels and lipid profile among the North Indian gall bladder cancer or gallstone patients. Materials and Methods: CYP-17 gene polymorphisms (MspA1) were genotyped with PCR-RFLP in cancer patients (n=96), stone patients (n=102), cancer + stone patients (n=52) and age/sex matched control subjects (n= 256). Lipid profile was estimated using a commercial kit and serum estrogen was measured using ELISA. Results: The majority of the patients in all groups were females. The lipid profile and estrogen level were significantly higher among the study as compared to control groups. The frequency of mutant allele A2 of CYP17 MspA1 gene polymorphism was higher among cancer (OR=5.13, 95% CI+3.10-8.51, p=0.0001), stone (OR=5.69, 95%CI=3.46-9.37, p=0.0001) and cancer + stone (OR=3.54, 95%CI=1.90-6.60, p=0.0001) when compared with the control group. However there was no significant association between genotypes of CYP17 MspA1 gene polymorphism and circulating serum level of estrogen and lipid profile. Conclusions: A higher frequency of mutant genotype A1A2 as well as mutant allele A2 of CYP-17 gene polymorphism is significantly associated with risk of gallbladder cancer and stones. Elevated levels of estrogen and an altered lipid profile can be used as predictors ofgall bladder stones and cancer in post menopausal females in India.

• Childhood Kidney Diseases
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• 제9권2호
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• pp.183-192
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• 2005

목 적 : 소아 HSPN의 임상 경과와 이에 영향을 미치는 예후 인자를 조사하였다. 방 법 : 소아 HSPN 환자 75명(남아 44명, 여아 31명)을 대상으로 하였으며 발병연령은 $8.0{\pm}3.1$세(2.3-l5.3세)였고 추적관찰 기간은 $4.3{\pm}3.6$년(1.0-17.1년)이었다. 신생검은 24명(32$\%$)에서 시행되었다. 발병시 임상 양상과 검사 결과를 조사하였으며, 대상 환자들의 RAS 유전자의 다형성(ACE 유전자의 I/D 다형성, AGT 유전자의 M235T 다형성, AGTR 유전자의 A1166C 다형성)에 대해 검사하였다. 발병시와 마지막 추적관찰시 임상 상태는 다음과 같이 4군으로 분류하였다: A, 정상; B, 정도의 소변이상; C, 활동성 신질환(신증후군 범위의 단백뇨) 또는 고혈압 소견을 보이면서 혈청 크레아티닌 1.5 mg/dL 이하; D, 신부전. 결 과 : 발병시 환자들의 임상 상태는 26명(35$\%$)이 B, 45명(51$\%$)이 C였고 D가 3명(4$\%$)이었다. RAS 유전자 다형성의 분포는 100명의 건강한 대조군과 다르지 않았다. 마지막 추적관찰시 환자들의 임상 상태는 A가 23명(31$\%$), B가 38명(50$\%$), C가 9명(12$\%$), D가 5명(7$\%$)이었다. Multiple logistic regression 결과 발병 연령과 발병시 단백뇨의 양이 유의한 예후 인자로 확인되었다. RAS 유전자는 HSPN의 예후 인자로 통계학적 유의성이 없었다. 결 론 : 본 연구에서는 발병 연령이 높을수록, 발병시 단백뇨의 양이 많을수록 소아 HSPN의 예후가 나쁜 것으로 나타났고 RAS 유전자는 HSPN의 예후와 상관 관계가 없었다. 더 정확한 연구를 위해서는 더 많은 수의 환자를 대상으로 전향적인 연구가 필요하리라 생각한다.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.