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당뇨병 환자에서의 PCR를 이용한 apolipoprotein E 유전자형 분석
팽정령 ( Jung Ryung Paeng ),김덕윤 ( Deog Yoon Kim ),우정택 ( Jung Taek Woo ),김성운 ( Sung Woon Kim ),양인명 ( In Myung Yang ),김진우 ( Jin Woo Kim ),김영설 ( Young Seol Kim ),김광원 ( Kwang Won Kim ),최영길 ( Yong Kil Choi ) 대한임상검사과학회 1992 대한임상검사과학회지(KJCLS) Vol.24 No.1
당뇨병은 고지혈증이 흔히 동반되며 다양한 벼인이 관여된다. Apolipoprotein E(단백질의 변이는) 고지혈증 유발성과 apo E isoform 의 분석이 시행되고있다. 최근 apo E 유전자형을 밝히는데 polymerase chain reaction(PCR) 방볍이 이용되고 있다. Apo E 는 299개의 아미노상으로 되어 있고 3개의 isoform 을 갖고 있는데 112번 158번째 아미노산서열의 차이점에 따라 E2, E3, E4로 구분한다. 본 연구에서는 apo E gene 을 PCR 법으로 증폭시켜 Hha I 제한효소로 소화시킨 다음 polyacryl-amide gel electrophoresis 하여 간편하고 신속하게 유전자형을 결정하였다. Hha I 은 Arginine 을 encod-ing 하는 GCGC sote를 인식 절단하는 효소이며 112arg(E4)과 158 arg(E3, E4)는 전단하지만 112cys(E2, E3) 와 15CYS(E2)는 GTGC 로 절단하지 못한다. 이러한 제한효소의 특성을 이용하여 Hha I restriciction fragment length 를 조사하였다. 당뇨병 환자 79명에서 각가의 유전자형을 분류한 결과 E2(6.3%), E3(81.0%), E4(12.7%)로 나타났으며 정신인 73명에서의 유전자형은 E2(4.8%), E3(84.9%), E4(10.3%)로 나타났다. 이상의 결과에서 보면 당뇨병 환자와 대조군과의 유전자 빈도에서의 통계적 유의성은 없었다. 그러나 유전자 빈도에 있어서는 우리 결과와 일본의 결과는 매우 유사하지만 유럽 지역의 결과와는 차이를 보였다. 이러한 결과의 차이는 인종간의 차이 및 유전자형을 결정한는 PCR법과 단백질을 분석하는 isoelectric focusing 간의 차이로 생각되며 향후 PCR법 이 유전자형을 결정하고 진단하는데 중요한 분야기 될 것으로 사료된다.
임신성 당뇨병 환자에서 글루코키나제 유전자의 췌도 B 세포 특이 프로모터 -30bp 부위의 변화
김진우(Jin Woo Kim),양인명(In Myung Yang),김성운(Sung Woon Kim),김영설(Young Seol Kim),최영길(Young Kil Choi),우정택(Jung Taek Woo),김세윤(Se Yoon Kim),오승준(Seung Joon Oh),팽정령(Jeon Ryung Paeng),장학철(Hak Chul Chang) 대한내과학회 1999 대한내과학회지 Vol.57 No.5
N/A Glucokinase is expressed only in both liver and pancreatic beta cells and has a key role in the regulation of glucose metabolism in these tissues. A number of gene defects associated with glucokinase gene and the cause of non-insulin-dependent diabetes mellitus are known, and the defects along the -30bp promoter site in particular are thought to be related to diabetes and glucose intolerance. To research on gene study related to diabetes, we looked into the relationship between the variation at -30bp of pancreatic beta cell specific glucokinase gene promoter and gestational diabetes mellitus(GDM) in Korea. Methods : Forty patients with GDM and 62 normal controls were studied. Genomic DNA was extracted from peripheral leukocyte of patients with GDM and normal controls. The nucleotide variation at -30 bp of pancreatic beta cell specific glucokinase gene promoter was analyzed by PCR-SSCP methods. The sequences of amplified DNA were confirmed with direct sequencing method. The clinical features and the response of insulin secretion to oral glucose were analyzed between patients with GDM according to genotypes. Results: Allelic frequency of position -30 bp of pancreatic beta cell specific glucokinase gene promoter did not differ between patients with GDM and normal subjects. However the frequency of G/A and A/A genotypes seemed to show a higher tendency in patients with GDM compare to the normal subjects. Clinical features, insulin response to oral glucose did not differ according to the type of variation at -30bp of pancreatic beta cell specific glucokinase gene promoter. Conclusion : These data suggested that the variation at -30 bp of pancreatic beta cell specific glucokinase gene promoter in patients with GDM are unlikely to be one of the possibilities of the genetic factors in the development of GDM. Therefore more sophisticated studies will be needed to elucidate the role of variation at -30bp of pancreatic beta cell specific glucokinase gene promoter in the insulin secretion to oral glucose. (Korean. J. Med 57:916-924, 1999)
당뇨병, 뇌졸중 및 급성심근경색증에서의 아포리포단백질 E의 유전자형 분포
김진우,팽정령,최영길,김영설,김광원,양인명,김성운,우정택,강성이 대한내분비학회 1992 Endocrinology and metabolism Vol.7 No.3
We tested apolipoprotein E genotypes in 79 patients with hyperlipidemic diabetes, 44 patients with cerebrovascular accident and acute myocardial infaction, and normal subjects with normolipidemia. We distinguished four different apolipoprotein E genotypes by polymerase chain reaction (PCR) and polyacrylamide gel electrophoresis (PAGE) and determined genotypes and allele frequencies. 1) The frequencies of apo E genotype E3/E4 was higher in the patients with hyperlipidemic diabetes (20.2%) than in the normal subjects with normolipidemia(4.1%) (0.01$lt;P$lt;0.025, X2=10.8). 2) The frequencies of the apo E4 allele was signficantly higher in the hyperlipidemic diabetic patients (12.7%) than in the normal subjects(6.1%) (0.005$lt;P$lt;0.01, X2=12.7). 3) In patients with CVA and acute MI the frequencies of apo E genotype E3E4 and E4 allele tended to be higher in the hypercholesterolemia (40.0%, 20.0%) than in the normocholesterolemia(3.8%, 2.0%) P$lt;0.002, X2=14.7). These data suggest that Apo E genotype E3/E4 and E4 allele are one of predisposing factors to hypercholesterolemia in patients with diabetes, cerebrovascular accident, and acute myocardial infarction.(J Kor Soc Endocrinol 7:273~279, 1992)
최영길,배정환,팽정령,오승준,신현대,김영설,정인경 WHO COLLABORATING CENTRE FOR TRADITIONAL MEDICINE 1999 東西醫學硏究所 論文集 Vol.1999 No.-
Obesity can be defined as a metabolic disease due to an increased state of fat tissues caused by an imbalance of calorie intake and use. Recently, in Korea by irnprovernent and westernization of food intake, along with decrease in excercise activities, the prevalence of obesity has increased greatly. Our objectives were to study the stability and effects of decrease in body fat by administering red ginseng compound preparation (known to have body fat decreasing effects in laboratory animals) to obese patients on low calorie diets. Changes in weight and body fat were measured while earring out calorie-restricted diets on patients for 4 weeks, then administering red ginseng compound preparation for another 4 weeks. The number of patients was 20 whose BMI were 25kg/m²or over and whose percent body fat was also 30% or over when tested by bioelectrical conductivity. 1) Changes in weight were from 70.04 kg (base line) to 67.43 kg (after taking red ginseng compound preparation). 2) In similar sense, BMI decreased from 27.12 kg/m²(base line) to 26.56 kg/m²(after dieting), and further to 26.01 kg/m²(after taking red ginseng compound preparation). The BMI seemed decrease significantly compared to the baseline after the use of red ginseng compound. 3) Waist hip ratio was unchanged. 4) The percent body fat was 35.16% (base line ) 33,87% (after dieting), and 31.68% (after taking red ginseng compound preparation). 5) Complete blood cell count and blood chemistry remained unaffected by the administration. 6) In concern to endocrinologic studies,T₃decreased from 118.7 to 98.2 ng/dL, and T₄increased form 8.8 to 9.2 ㎍/dL, Epinephrine showed a tendency to decrease from 0.27 to 0.25 ng/mL, and norepinephrine increased from 0.39 to 0.44ng/mL. In conclusion, loss of weight without significant side effects was observed during low calorie diet and red ginseng compound preparation administration. This is thought to be in relation to sympathetic nerve system rather than adrenal gland. Also, further long term studies should be required, since the oberved results were based on short term changes in weight.
인슐린 비의존형 당뇨병 및 비만증 환자에서의 PPARγ2 유전자 다형성
김진우,우정택,김덕윤,최영길,김영설,양인명,김성운,오승준,강성이,박혜순,팽정령 대한내과학회 2000 대한내과학회지 Vol.59 No.2
Background : Peroxisome proliferator activated receptor-gamma (PPAR-γ) is a nuclear receptor that regulate adipocyte differentiation and modulate intracellular insulin-signaling events. As such, PPARγ is a candidate gene for several human disorders including obesity and type 2 diabetes mellitus. The objective of our study was to examine the relationship between genetic variation of PPARγ2 and diabetes and obesity in Korean subjects. Methods : We studied 99 subjects with type 2 diabetes mellitus, 128 obesity patients and 97 controls. Screening for mutation at codon 12 and 115 of PPARγ2 were carried out by PCR-RFLP analyses. Statistical significance was evaluated by Chi-square test. Results : The allele frequency of the Pro12Ala PPARγ2 variant were 0.05 in controls, 0.06 in type 2 diabetes group, and 0.07 in obesity group (p=0.47). Pro115Gln variant were only proline homozygote in all groups. Genotype frequencies were also similar and conformed to expectations of the Hardy-Weinberg rule. The presence of P gene variant was no associated with concentrations of total cholesterol, triglyceride, HDL-cholesterol, and also with fasting glucose. Conclusion : We concluded that the Pro12Ala and Pro115Gln PPARγ2 missense mutation may not be associated with type 2 diabetes mellitus and obesity in Korean patients.(Korean J Med 59:132-141, 2000)