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미배양 태아제대혈액세포에서의 염색체이상 확인을 위한 FISH 의 이용
최영민,최영민(Young Min Choi),장은주(Eun Ju Chang),전종관(Jong Kwan Jun),황도영(Do Yeong Hwang),정경순(Kyung Soon Cheong),김기철(Ki Chul Kim),민응기(Eung Gi Min),최진(Jin Choe),문신용(Shin Yong Moon) 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.3
Objective: To determine the fetal aneuploidy in fetal blood cells from cordocentesis. Methods: We analyzed their karyotype and performed fluorescence in situ hybridization(FISH) for chromosome 18, 21, X, and Y in 14 cases of fetal blood cells from cordocentesis at Department of Obstetrics & Gynecology, College of Medicine, Seoul National University and Hamchoon Women's Clinic. Results: In all cases we obtained the consistent results in both methods and were able to rapidly detect aneuploidy in uncultured fetal blood cells using FISH before karyotyping with culture for 48 hr. The averages for accuracy of FISH were from 84.6 % to 93.9%. Conclusion: In this study we suggest that the rapid detection in uncultured fetal blood using FISH is possible and that this diagnostic method will be clinically useful when rapid result would be demanded.
유력 렘수면 행동장애 환자 유병률과 임상 양상-오산시 역학 연구
최영민,윤인영,김기웅,이상돈,주가원,박준혁,Choe, Young-Min,Yoon, In-Young,Kim, Ki-Woong,Lee, Sang-Don,Ju, Ga-Won,Park, Joon-Hyuk 대한수면의학회 2011 수면·정신생리 Vol.18 No.1
목 적: 렘수면 행동장애는 기존 역학 연구에서 큰 관심을 받지 못했다. 본 연구는 유력 렘수면 행동장애의 유병률과 임상 양상에 대해 살펴보고자 하였다. 방 법: 오산시에 거주중인 60세 이상 노인 14,050명 중 1,588명이 임의추출을 통해 표본 집단으로 선정되었고 이들을 대상으로 렘수면 행동장애 선별 설문지로 선별검사를 시행했다. 선별 설문지 점수가 5 이상인 집단은 수면의학 전문가가 직접 개별 면담평가를 시행했다. 결 과: 14,050명의 모집단 중 886명이 1차 선별평가를 마쳤다. 선별검사 설문지 점수가 5 이상인 145명 중 123명이 2차 진단평가를 받았다. 이중 11명이 유력 렘수면 행동장애로 진단되었고 유병률은 1.5%(95% CI=0.70-2.30%)로 나왔다. 우울과 인지기능 저하의 빈도가 유력 렘수면 행동장애 진단군에서 그렇지 않은 군에 비해 유의미하게 증가되었다. 결 론: 유력 렘수면 행동장애는 노년층에서 드물지 않은 질환이지만 이에 대한 인식은 부족한 실정이다. 유력 렘수면 행동장애의 평가와 치료에 대한 관심이 더욱 요구된다. Objectives: REM sleep behavior disorder (RBD) has received little attention in epidemiologic studies. This study aimed to determine the prevalence of probable REM sleep behavior disorder (pRBD) in the elderly population and its clinical features. Methods: A random sample of 1,588 was selected from a roster of 14,050 elderly population living in Osan city. The subjects were asked to fill out the REM sleep behavior disorder screening questionnaire (RBDSQ). Subjects whose score were 5 or higher on RBDSQ underwent a diagnostic phase of person-to-person assessment by experts in RBD. Results: Among 1,588 subjects, 886 elderly subjects participated in the screening phase and 123 subjects were assessed in the diagnostic phase. Eleven subjects were diagnosed as having pRBD, so prevalence was 1.5% (95% CI=0.70-2.30%). The frequency of depression and cognitive decline was significantly increased in patients with pRBD compared to subjects without pRBD, and there was no difference in sleep disturbances between two groups. Conclusions: Probable REM sleep behavior disorder is not rare in the elderly but frequently under-recognized. More attention should be paid to evaluation and treatment of RBD.
최영민 ( Young Min Choi ),김은주 ( Eun Joo Kim ),이미란 ( Mi Ran Lee ),손영수 ( Young Soo Son ),최진 ( Jin Choe ),황도영 ( Do Yeong Hwang ),전종관 ( Jong Kwan Jun ),지병철 ( Byung Chul Jee ),구승엽 ( Seung Yup Ku ),서창석 ( Chang 대한산부인과학회 2004 Obstetrics & Gynecology Science Vol.47 No.10
Objective : To identify mutations within the factor Ⅷ gene in Korean patients with severe hemophilia A. Design : A laboratory analysis. Methods : We systematically sequenced the promoter, all exons and splice junctions of factor Ⅷ gene in 23 unrelated Kor
최영민(Young Min Choi),최진(Jin Choe),황도영(Do Yeong Hwang),박성효(Sung Hyo Park),전종관(Jong Kwan Jun),구승엽(Seung Yup Ku),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jeong Koo Kim),문신용(Shin Yong Moon),이진용(Jin Yong L 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.5
We have undertaken this study to identify the usefulness of two variable dinucleotide tandem repeats within the factor Ⅷ gene for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. We have analyzed these polymorphisms in 50 unrelated Korean mothers of patients with severe hemophilia A, using polymerase chain reaction. The expected heterozygosity rates of the intron 13 and intron 22 dinucleotide repeats were 56% and 40%, respectively. Analysis of the intron 13 and intron 22 dinucleotide repeats revealed heterozygous patterns in 29(58%) and 17(34%) of 50 mothers studied, respectively. The combined overall informativity of the intron 13 and intron 22 dinucleotide repeats was 68%. Using linkage analysis with the intron 13 dinucleotide repeats, we have attempted three cases of carrier detection and two cases of prenatal diagnosis in two families of patients with severe hemophilia A. Two pregnant women were diagnosed as carriers, and the other patients as non-carrier Prenatal diagnosis revealed an unaffected male in one fetus, and an unaffected female in another fetus. This data demonstrated that the analysis of the intron 13 and intron 22 dinucleotide repeats very useful in the carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
최영민(Young Min Choi),지병철(Byung Chul Jee),최진(Jin Choe),오선경(Sun Kyung Oh),황도영(Do Yeong Hwang),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),김정구(Jung Gu Kim),문신용(Shin Yong Moon),이용희(Yong Hee Lee),이진용(Jin Yong Lee 대한산부인과학회 2000 Obstetrics & Gynecology Science Vol.43 No.2
Objective: To identify cytogenetic diversity of Turner syndrome, and its correlation with clinical manifestation including fertility. Method: From 1986 to 1996, we reviewed medical records of 137 patients, cytogenetically and clinically diagnosed as Turner syndrome. Cytogenetic study was performed using peripheral lymphocytes with GTG banding. Marker chromosomes were re-evaluated by quinacrine staining. Results: Overall incidence of mosaic pattern was 57.7% in Turner syndrome, showing 45,X line combined with structural anomalies of X chromosome(n=39), marker chromosome(n=22), numerical abnormalities of sex chromosome(n=6), and 46,XX(n=5). With comparison of clinical manifestation in 45,X/46,XX(n=5) and four most common pattern, 45,X(n=42), 45,X/46,X,i(Xq)(n=26), 45,X/46,X,+mar(n=22), 46,X,i(Xq)(n=9), there was no significant differences statistically, except short stature and diabetes. Incidence of short stature was significantly higher in 45,X or 46,X,i(Xq) than 45,X/46,XX(78.6%, 88.9%, 20.0%), and significant difference existed in incidence of diabetes between 45,X and 46,X,i(Xq)(0%, 22.2%). Sixteen patients had a history of marriage, but only one had a history of spontaneous conception and delivery with mosaic 45,X[2]/51,XXXXXXX[1]/46,XX[47]. Conclusion: The karyotypes of Turner syndrome was very variable, and about 60% had mosaicism. Patients with 45,X/46,XX had a significant lower incidence of short stature than in 45,X or 46,X,i(Xq), and 46,X,i(Xq) had a significant higher incidence of diabetes than in 45,X. We identified a woman with mosaic 45,X/51,XXXXXXX/46,XX was fertile.
PCR을 이용한 factor 8 유전자의 XbaI/intron 22 다형성 분석에 의한 혈우병 A의 분자유전학적 진단
최영민 ( Young Min Choi ),박성효 ( Sung Hyo Park ),백고은 ( Ko Eun Back ),최진 ( Jin Choe ),황도영 ( Do Yeong Hwang ),전종관,구승엽 ( Seung Yup Ku ),서창석 ( Chang Suk Suh ),김석현 ( Seok Hyun Kim ),김정구 ( Jung Gu Kim ),문신용,이미란 대한산부인과학회 2003 Obstetrics & Gynecology Science Vol.46 No.4
Objective : To set up the methodology for PCR analysis of XbaI/intron 22 polymorphism of the factor Ⅷ gene, and to identify the usefulness of XbaI/intron 22 polymorphism analysis for carrier detection and prenatal diagnosis of hemophilia A in the Korean p
한국인 정신지체 환자에 있어서 취약 X증후군의 빈도 : 세포유전학적 및 분자유전학적 분석
최영민(Young Min Choi),황도영(Do Yeong Hwang),전종관(Jong Kwan Jun),최진(Jin Choe),박성효(Sung Hyo Park),노미경(Mee Kyung Noh),오선경(Sun Kyung Oh),구승엽(Seung Yup Ku),서창석(Chang Suk Suh),김석현(Seok Hyun Kim),양세원(Se Won Yang) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.11
Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However, the exact prevalence of fragile X syndrome in Korean patients with mental retardation is unknown. We have performed cytogenetic and molecular analysis for fragile X syndrome in 212 Korean patients with mental retardation. Among them, six patients (2.8%) was identified as carrying fragile X syndrome by both cytogenetic and molecular analysis. The results by cytogenetic analysis was identical to those by molecular analysis. Cytogenetic analysis of 6 carriers (mothers of patients with proven fragile X syndrome) showed a fragile X chromosome in one patients (16.7%) while molecular analysis revealed premutation in all patients. PCR method using Klentaq1과 Pfu polymerase showed the same results as those by PCR method using Exo(-) Pfu polymerase, but the former method is recommended because of its simplicity in technical aspect. These data suggest that the prevalence of fragile X syndrome in Korean patients with mental retardation is 2.8%, not significantly different from those in Caucasians.
페퍼민트분말 급여가 비육기 재래흑돼지의 육질 특성 및 지방산 조성에 미치는 영향
지중룡,최영민,송동용,최호성,나종삼,심관섭,Ji, Joong-Ryong,Choi, Young-Min,Song, Dong-Yong,Choe, Ho-Sung,Na, Chong-Sam,Shim, Kwan-Seob 한국축산식품학회 2011 한국축산식품학회지 Vol.31 No.2
본 연구는 페퍼민트 급여가 재래흑돼지의 육질특성과 근육내 지방산 조성 및 콜레스테롤 함량에 어떠한 영향을 미치는지 분석하기 위해 실시하였다. 이를 위해 페퍼민트 분말을 평균체중이 $77{\pm}5$ kg일 때부터 출하까지 0.2%(T1) 또는 0.4%(T2)를 50일간 급여하였으며, 도축 후 등심근을 채취하여 다양한 품질특성을 분석하였다. 일반성분은 처리구간에 유의적인 차이가 나타나지 않았으나, T2처리구에서 조지방 함량이 대조구보다 감소하는 경향이었다. 사후 45분 pH는 처리구간에 유의적인 차이가 없었지만, 24시 pH에서 대조구보다 유의적으로 T2처리구가 높게 나타났다(p<0.05). 육색에 있어서 명도와 황색도는 T2가 대조구보다 유의적으로 낮게 나타났다(p<0.05). 연도와 보수력 역시 처리구간에 차이가 없는 것으로 나타났다. 페퍼민트 첨가는 지방산 조성과 콜레스테롤 함량에 영향을 미치지 못하였으나, T1은 대조구보다 포화지방산이 감소하고 불포화지방산이 증가하는 경향이었다. 또한 콜레스테롤 감소지수는 T1이 대조구보다 유의적으로 높게 나타났다(p<0.05). 이상의 결과를 종합하면 페퍼민트 첨가 사료는 돈육질에 큰 영향을 미치지는 않지만, 지방산 및 콜레스테롤의 건강기능적인 측면에서 긍정적인 영향을 미칠 것으로 판단되며, 보다 심도 있는 추가 연구가 필요한 것으로 사료된다. This study was conducted to investigate the effect of peppermint powder on meat quality and fatty acid composition in finishing Korean native black pigs. Ninety pigs were randomly allocated to three dietary treatments and fed peppermint powder at 0 (C), 0.2 (T1), and 0.4% (T2) in the basal diet, respectively for 50 d. The proximate composition of Longissimus dorsi muscle was not significantly different among the treatments; however, the fat content in T2 tended to be lower than the control. No difference in $pH_{45min}$ was observed, whereas $pH_{24h}$ was higher in T2 than the control (p<0.01). T2 showed the lowest lightness (p<0.01) and yellowness values (p<0.05), but shear force and drip loss were no different among the treatments. Individual fatty acid and cholesterol compositions did not differ among the treatments; however, T1 showed a decreasing trend for saturated fatty acid content and an increasing trend for unsaturated fatty acid content. The hypocholesterolemic index was significantly higher in T1 than in the control (p<0.05). These results suggest that dietary peppermint could positively affect fatty acid and cholesterol levels without changing meat quality in finishing Korean native black pigs.
임신부 혈액내의 태아세포를 이용한 태아의 성별 및 BclI 유전자 다양성 분석
최진(Jin Choe),최영민(Young Min Choi),황도영(Do Yeong Hwang),박성효(Sung Hyo Park),전혜원(Hye Won Jeon),배광범(Kwang Bum Bae) 대한산부인과학회 2002 Obstetrics & Gynecology Science Vol.45 No.10
Objective : We used nucleated erythrocytes in maternal blood for prenatal determination of the fetal gender as the preliminary experiment for the screening of fetal genetic status and the BclI DNA polymorphism in an attempt to clarify the origin of erythrocytes in maternal blood. Methods : In seventeen pregnant women, venous blood was withdrawn and the nucleated erythrocytes were recovered by magnetic activated cell sorting (MACS) and immunostaining. After isolation of nucleated erythrocytes by micromanipulation, we performed nested PCR for amelogenin gene to identify the fetal gender and performed BclI DNA polymorphism to clarify the origin of erythrocytes. Results : We could amplify the minute DNA in a single cell by primer extension preamplification and nested PCR of amelogenin gene in 94 (48.7%) cells and could identify the fetal gender by 58.8%. BclI DNA polymorphism revealed that the several cells, which did not reveal the specific band of Y chromosome in spite of the pregnancy of male fetuses, must be the cells from mother. Conclusion : Through this study, we could conclude that several nucleated erythrocytes in maternal blood circulation can originate from mother, therefore we must develop the new method to identify the nucleated erythrocyte of fetal origin. Considering that we must apply for the larger number of pregnant women to screen, the procedure was multi-step and complex. Therefore, we must design the new scheme to utilize the nucleated erythrocytes in maternal blood.
한국인 혈우병B의 분자유전학적 진단에 있어 HhaI 부위 및 MseI 부위 DNA Polymorphism 양상 분석의 유용성
이재학(Jae Hak Lee),최영민(Young Min Choi),최진(Jin Choe),황도영(Do Yeong Hwang),이진용(Jin Yong Lee) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.12
Objectives: Hemophilia B has been known to result from more than 500 kinds of mutations. And it is difficult to find out a mutation specific for each family. Therefore, linkage analysis of DNA polymorphism within or near the factor IX gene has been frequently used in the clinical practice for molecular genetic diagnosis of hemophilia B. But the ethnic variation makes more difficult to apply useful markers in Caucasian population. To investigate the usefulness of the MseI and HhaI polymorphism in Korean population, we analysed the MseI and HhaI polymorphism. Methods: Forty-five normal Korean and thirteen parents of the hemophilia B patients, using PCR and restriction enzyme analysis.Results: The heterozygosity rate of MseI polymorphism was 49.7% and that of HhaI polymorphism was 25.5%. Conclusion: These data indicated that PCR-based analysis of MseI and HhaI polymorphism of factor IX was useful in molecular genetic diagnosis of hemophilia B in Korean population.