http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
이소현 ( So Hyun Lee ),박보현 ( Bo Hyun Park ),박미혜 ( Mi Hye Park ),박혜숙 ( Hye Sook Park ),전선희 ( Sun Hee Chun ),안정자 ( Jung Ja Ahn ),류현미 ( Hyun Mee Ryu ),이광수 ( Kwang Soo Lee ),박현영 ( Hyun Young Park ),김영주 ( You 대한산부인과학회 2007 Obstetrics & Gynecology Science Vol.50 No.4
목적: 자간전증의 발병기전에 관여할 것으로 예측되는 PPARγ와 MTHFR 유전자의 단일염기다형성 및 일배체형과 한국인에서 자간전증의 연관성을 분석하고자 하였다. 연구 방법: 자간전증 환자 226명과 대조군 235명을 대상으로 하여 말초혈액검체에서 DNA를 추출하였고, PPARγ(-796A>G, P12A (C>G), H447H (161C>T)), MTHFR (A222V (677C>T), E429A (1298A>C), R594Q (1793G>A)) 유전자의 단일염기다형성의 유전자형은 SNaPShot assay kit를 이용한 single base primer extension assay로 분석하였다. 결과는 Student`s t-test, 카이제곱검정, 선형회귀분석으로 분석하였고, 일배체형 분석은 Haploview 3.2 version을 이용하여 수행하였다. 결과: 대상 환자들에서 PPARγ, MTHFR 유전자의 대립유전자 빈도 및 유전자형 빈도는 환자군과 대조군 간에 유의한 차이가 없었고 (p>0.05), PPARγ와 MTHFR의 단일염기다형성들의 유전자형은 자간전증 위험에 있어 유의한 차이가 없었다(p>0.05). PPARγ과 MTHFR 유전자의 단일염기다형성들 중 MTHFR 유전자의 3가지 단일염기다형성 677C>T, 1298A>C, 1793G>A 사이에 서로 강한 연관불균형을 보였으나 (Lod score>2.0), MTHFR 유전자의 TAG, CAG, CCA, CCG 일배체형의 유전자형의 분포는 환자군과 대조군 간에 유의한 차이가 없었고 (p>0.05) 자간전증 위험에 있어 통계적으로 유의한 차이가 없었다 (p>0.05). 결론: 이상의 결과를 통해 한국인에서 PPARγ과 MTHFR의 유전자다형성은 자간전증과 연관성이 없었고 이들의 일배체형도 연관성이 없었다. Objective: To investigate whether polymorphisms of genes encoding peroxisome proliferator-activated receptor-γ (PPARγ) and methylenetetrahydrofolate reductase (MTHFR) are associated with preeclmapsia in Korean women and also to demonstrate whether there is any haplotypic association between preeclampsia and those genes. Methods: DNA was extracted from whole blood of 226 preeclampsia patients and 235 healthy pregnant women. The genotypes of SNPs in PPARγ (-796A>G, P12A (C>G), H447H (161C>T)) and MTHFR (A222V (677C>T), E429A (1298A>C), R594Q (1793G>A)) were analyzed by a single base primer extension assay using a SNaPShot assay kit. Results were analyzed with the Student`s t-test, Chi-square test, and Logistic regression analysis. Haplotype analyses were performed using Haploview 3.2 version. Results: There were no significant differences in genotype or allele frequencies of PPARγ and MTHFR gene polymorphisms between preeclampsia patients and controls (p>0.05). No increase in the risk of preeclampsia for those genes was observed under any model of inheritance. Among SNPs of the PPARγ, MTHFR genes, only SNPs in MTHFR gene (677C>T, 1298A>C, 1793G>A) were in a strong linkage disequilibrium with each other (Lod score>2.0), but there were no significant differences in genotype distribution of haplotypes of MTHFR gene (TAG, CAG, CCA, CCG) between preeclampsia patients and controls (p>0.05). No statistically significant associations were observed between any haplotypes of MTHFR gene and preeclampsia risk. Conclusion: This study suggest that SNPs in PPARγ and MTHFR gene were not associated with preeclampsia in Korean women, and its haplotypes were also not associated with preeclampsia.
비정상 산과력을 가진 부부에서의 균형전좌형 염색체 보인자의 빈도 및 그 보인자들에서의 산전 세포유전학적 진단
박소연,강인수,류현미,전종영,이문희,김진미,최수경,Part, So-Yeon,Kang, Inn-Soo,Ryu, Hyun-Mee,Jun, Jong-Young,Lee, Moon-Hee,Kim, Jin-Mi,Choi, Soo-Kyung 대한생식의학회 1997 Clinical and Experimental Reproductive Medicine Vol.24 No.3
Cytogenetic analysis was performed in 1321 couples and 141 women with history of abnormal reproductive outcome during 1988-1996. The use of high resolution banding technique and fluorescence in situ hybridization (FISH) in the chromosome analysis has made the precise evaluation of chromosome aberrations. The prevalence of balanced chromosomal translocation carriers were 3.74% (104/2783 patients). 70 cases (2.52%) were reciprocal translocation carriers and 34 (1.22%) had Robertsonian translocations. Chromosome aberrations were more frequent in women (73 cases) than in men (31 cases). No phenotypical abnormalities were found in all carriers, but they experienced abnormal reproductive outcomes such as recurrent spontaneous abortions, anomalous offsprings or infertility problem. Prenatal diagnosis was carried out on 36 subsequent pregnancies in balanced translocation carriers. The fetal karyotypes showed that 12 cases (33%) were normal, 22 (61%) were balanced translocations, and two (6%) were unbalanced translocations. It is concluded that the prevalence of balanced chromosomal translocations in patients with abnormal reproductive outcome is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal diagnosis, individuals with balanced translocations are predisposed to abnormal offspring with partial trisomy or monosomy. Therefore we recommend that genetic counselling and cytogenetic prenatal diagnosis for translocation carriers have to be offered to prevent recurrent chromosomal abnormal babies.
무정자증을 보이는 남성과 정상 생식력을 가진 여성의 가계에서 관찰된 X 염색체의 Pericentric Inversion
이봄이(Bom Yi Lee),류현미(Hyun Mee Ryu),이문희(Moon Hee Lee),박주연(Ju Yeon Park),김진우(Jin Woo Kim),이중식(Joong Shik Lee),김혜옥(Hye Ok Kim),김민형(Min Hyung Kim),박소연(So Yeon Park) 대한의학유전학회 2008 대한의학유전학회지 Vol.5 No.2
무정자증을 보이는 40세 남성과 3대에 걸쳐 정상 생식력과 표현형을 보이는 38세 산모의 가계에서 동원체를 포함한 X 염색체의 역위를 경험한 바, 이를 문헌고찰과 함께 보고하고자 한다. 첫 번째 증례의 남성 환자는 정상범위의 LH, prolactin, estradiol, testosterone 혈중농도를 보였으나 FSH는 20 mIU/mL을 보여 정상수치보다 높았다. 조직학적 소견으로는 정소 내 제 1, 제 2 정모세포의 발달이 정지되어 있었지만 Y 염색체의 sY84, sY129, sY134, sY254, sY255, SRY 부위에 대한 미세결실은 없었다. 그 외 특이할 만한 임상적 소견은 보이지 않았다. 환자의 말초혈액으로부터 세포유전학적 검사로 GTL-분염법 판독을 한 결과, 46,Y,inv(X)(p22.1q27)로 나타났다. 두 번째 증례의 산모와 그 태아는 각각 46,X,inv(X)(p22.11q27.2), 46,X,inv(X)(p22.1q27)의 핵형이 관찰되었다. 이 산모의 가계는 본 연구실에서 친언니의 산전진단 시 언니, 언니의 태아, 환자의 아버지가 각각 46,X,inv(X)(p22.11q27.2), 46,Y,?inv(X), 46,Y,inv(X)(p22.11q27.2)의 형태로 inv(X)가 관찰된 기록이 있었고 대상자 모두 inv(X)로 인한 특징적인 임상적 증상은 보이지 않았다. 또한 RBG-분염법을 통해 관찰한 X 염색체의 비활성화는 언니의 inv(X) 비활성화 비율이 4.1%, 환자는 69.5%로 혈액세포 내에서의 X 염색체의 비활성화 비율은 서로 다르게 관찰되었다. 따라서 이 가계의 inv(X)는 특정 유전자의 손상이 없는 균형적 역위이며, X염색체의 역위현상으로 인한 비정상 표현형이나 생식기능의 결함은 관찰되지 않았다. 그러나 증례1의 남성의 경우 세포유전학적으로 동일한 위치에 절단점을 가졌으나 생식세포의 발달과정의 결함이 관찰되었으며, 절단점 주변에 위치한 중요한 유전인자들의 손상 가능성이 제기되었다. We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-yearold man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband’s father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.
산전진단된 Down증후군 30례의 초음파소견과 임상적 고찰
송하균 ( Ha Kyun Song ),류현미 ( Hyun Mee Ryu ),노성훈 ( Sung Hoon Roh ),박선희 ( Sun Hee Parks ),김문영 ( Moon Young Kim ),김은성 ( Eun Sung Kim ),한호원 ( Ho Won Han ),최수경 ( Soo Kyung Choi ),이영호 ( Young Ho Lee ),유시준 ( S 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.12
Obstetric record and prenatal ultrasound findings were reviewed in 30 fetuses which have been proved Down syndrome(trisomy21)during 7 year period. Elderly gravida above 35 years old were 15 cases among 30 cases(50%) Eleven cases(65%) among 17 were maternal serum screening positive for Down syndrome. In 11 out of 15 women below 35 years old, obtained fetal karyotyping because of abnormal ultrasound finding(73%) which reviewed nuchal translucency(5 cases) in early pregnancy. When modified Benacerraf scoring(Thickened nuchal fold 2, Major abnormality 2, Short femur 1, Short humerus 1, Pyelectasis 1, Hyperechogenic bowel 1, Choroid plexus cyst 1, Nuchal translucency 2, We added a nuchal translucency over 3 mm to our modified system) was applied in ultrasound finding, 18 case had score above 2. Sensitivity and specificity was respectively 60%, 99% by ultrasound screening for Down Syndrome using modified Benacerraf scoring above 2. In the future, it may be possible to combine sonographic scoring system, maternal age, and the triple marker serum evaluation to refine further the prediction of risk of Down syndrome.
문명진 ( Myoung Jin Moon ),류현미 ( Hyun Mee Ryu ),정진훈 ( Jin Hoon Chung ),임하정 ( Ha Jung Lim ),최준식 ( June Seek Choi ),김주오 ( Joo Oh Kim ),신중식 ( Joong Sik Shin ),안현경 ( Hyun Kyong Ahn ),한정렬 ( Jung Yul Han ),김문영 대한산부인과학회 2004 Obstetrics & Gynecology Science Vol.47 No.8
목적: 다운증후군으로 진단된 태아 중 임신 중기에 정밀초음파를 시행한 59예의 초음파 소견을 분석하여, 유전학적 초음파 검진의 유용성을 평가하는데 필요한 단독 유사비를 얻고자 하였다. 연구 방법: 1993년 1월부터 2002년 12월까지 성균관대학교 삼성제일병원 산부인과에서 산전 염색체검사를 통하여 다운증후군으로 진단된 태아 중 본원에서 임신중기 정밀 초음파 (level II sonography)를 시행한 총 59예를 대상으로 임상기록 및 초음파 기록을 Objective: To determine the risk of Down syndrome in fetuses with sonographic markers using the likelihood ratios and individual risk assessment. Methods: We retrospectively evaluated the midtrimester genetic sonographic features of fetuses with Down synd