임산부 말초혈액에서 중합효소연쇄반은 ( PCR ) 을 이용한 태아의 성염색체 분석과 이의 산전유전 진단응용

송찬호(CH Song),양영호(YH Yang),김인규(IK Kim),김동욱(DW Kim),김미순(MS Kim),유향숙(HS Yoo),이미화(MH Lee) 대한산부인과학회 1995 Obstetrics & Gynecology Science Vol.38 No.3

산전유전검사를 받을 임산부 22예를 대상으로 이들의 말초혈액을 채취하여 Y chromosome-specific ZFY gene DNA sequence와 Y chromosome 단완의 DYS 14 locus에 위치한 Y-specific sequence를 nested polymerase chain reaction assay법으로 증폭하여 산전 태아 성(fetal sex)판정을 시도하여 다음과 같은 결과를 얻었다. 1. ZFY 유전자의 primer인 Z1, Z2 및 Z3, Z4를 이용한 중합효소연쇄반응 결과, 여아 및 남아를 임신한 전예에서 양성띠가 나타나 비특이성을 보였다. 2. Y-chromosome DYS 14 locus의 sequence primer인 Y1.5, Y1.6 및 Y1.7, Y1.8 primer를 이용한 중합효소연쇄반응 결과, sensitivity는 76.9%, specificity는 55.5%였으며, positive 및 negative predictive value는 각각 71.4%와 62.5%였다. 이를 임신주수별로 분석하여 보면 임신 초기, 중기 및 말기의 positive predictive value는 각각 66.6%, 66.6%와 80%로, negative predictive value는 각각 50%, 50% 및 100%로 나타났으며, 임신 9-16주에는 여아를 임신한 임산부 중 남성 특이의 band가 나타나는 경우가 6예중 3예, 남아를 임신한 임산부 중 남성특이의 band가 나타나지 않는 경우가 7예중 3예로 낮은 신회도를 보였으나 임신 18-40주에는 남아인 경우 1예를 제외하고는 남성 특이 band가 나타났으며, 여아인 경우는 모든 예에서 198 base pair의 남성 특이 band가 나타나지 않았다. 저자들은 본 연구에서 모체 말초혈액에서 중합효소연쇄반응(PCR)을 이용한 태아의 성판정은 임신후기에는 가능하나 임신초기에 있어서는 그 신뢰도가 낮은 것으로 생각 된다. 따라서, 임신 초기 모체혈액내에 있는 태아세포만을 선별적으로 구별할 수 있는 방법을 이용하여 Y1.5, Y1.6 및 Y1.7, Y1.8 primer를 이용 PCR을 하면 정확한 태아의 성판정이 가능할 것으로 사료된다. 본 연구는 연세대학교 의과대학 교수연구비에 의해서 이루어짐 (1994년도). Objectives : Detection of Y-chromosome specific gene in the maternal circulation has clinical importance because of its potential usefulness in determining fetal sex in mothers with severe X-linked disorders such as classic hemophilia A and Duchenne`s muscular dystrophy. Numerous attempts have been made to identify Y specific gene in bloods of mothers bearing male fetuses, however, the results have been controversial. Therefore, we have investigated the use of a nested polymerase chain reaction assay for the detection of a fetal specific Y-chromosome sequence. Methods : Y chromosome specific ZFY gene DNA sequence(using Z1, Z2 and Z3, Z4 primers) and Y chromosome sequence in DYS 14 locus (using Y1.5, Y1.6 and Y1.7, Y1.8 primers) have been identified by an in vitro enzymatic deoxyribonucleic acid amplification method in peripheral blood specimens of 22 pregnant women with gestational ages of 9 to 40 weeks. Results : All women bearing male or female baby were positive for the ZFY gene. Thirteen fetuses were confirmed as males by amniocentesis or chorionic villi sampling, and 10 of these were positive for the Y chromosome specific sequence in DYS 14 locus using Y1.5, Y1.6 and Y1.7, Y1.8 primers(sensitivity 76.9%), however, 4 of the 9 cases diagnosed as females were also positive(specificity 55.5%). Positive and negative predictive values were 71.4% and 62.5%. In terms of the gestational age, positive predictive values of 66.6%, 66.6% and 80% were obtained for the first, second and third trimesters, respectively. The corresponding negative predictive values are 50%, 50%, and 100%, respectively. Conclusion : Fetal sex determination by PCR employing maternal peripheral blood is usually possible in late pregnancy. It is less reliable in early pregnancy. It appears that using a method separating fetal cells from maternal blood and then by running PCR on these cells with Y1.5, Y1.6 and Y1.7, Y1.8 primers could make a fairly accurate fetal sex determination.

복강경하의 흔적자궁 임신진단 및 처치 1 례

김재욱,조동제,이위현,차선희,이미화,이경술,원종건,강승룡 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.10

In this presentation, we describe a case of unruptured rudimentary uterine horn preg-nancy. The patient was diagnosed by laparoscopy and removed by laparoscopic resection of the pregnant rudmentary uterine horn, and then some articles concerned to this subject are reviewed briefly in order to discuss relevant method of diagnosis, treatment, and clinical characteristics.

골반방선균증 4 예

지용헌,김정수,조동제,정창조,신명철,이미화,이경술,원종건 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.8

Actinomycoces is a gram positive, anaerobic, branching and non-acid fast bacterium which is a normal habitant of the skin, oral cavity, tonsil and gastrointestinal tract and its human infection is rare. Pelvic actinomycoses is frequently caused by Actinomycoces israel-ii. It is chronic, progressive, and more suppurative than granulomatous disease, and the symptoms are usually persistent and gradual, therefore the misdiagnosis and improper trea-tment are not uncommon. Actinomycoses is generally classified as cervicofacial, abdominal and thoracic type ac- cording to the site of the primary infection. Many actinomycotic pelvic infections in women used intrauterine device with long du- ration were reported, in contrast, others suggest that actinomycoces developed opportunistic infection irrespective of intrauterine device presence. We have experienced 4 cases of pelvic actinomycoses, one case with IUD(Lippes` loop) in a 47 year old woman, the other case with abdominal wall ctinomycoses in a 34 year old woman, the third case without IUD in a 41 year old woman, the fourth case with IUD(Cu-7) in a 37 year old woman and reported them with a review of literature.

자궁경부암환자에 발생한 Q Fever 1 예

김동규,김영태,김재욱,박규현,이원영,이미화 대한산부인과학회 1994 Obstetrics & Gynecology Science Vol.37 No.12

저자들은 1예의 고열을 동반한 침윤성 자궁경부 암환자의 말초혈액 임파구에서 C. burnetii 감염과 털세포변형을 확인하였으며, 경구 리팜핀의 투여로 임상증상의 호전을 경험하였기에 문헌고찰과 함께 보고하는 바이다. Q Fever is caused by Coxiella burnetii an boligate intracellular parasite that lives within the phagolysosome of infected cells. The infection can be asymptomatic, acute or chronic. Latently infected hosts with an immunocompromised condition may reactivate and experience Q Fever . Several cases of Q fever were reported as a complication fo malignancy. Recently Coxiella burnetii infected human peripheral blood lymphocyte (PBL) has been reported to undergo hairy cell transformation and therefore we can suggest the relationship between Coxiella burnetii infection and hairy cell leukemia. We report here a case of Q fever in 47-year-old patient with invasive cervical carcinoma and review the literature related to this disease.

자궁경부암 환자에서의 coxiella burnetii 감염실태

김동규,김영태,김재욱,박규현,이원영,이미화 대한산부인과학회 1995 Obstetrics & Gynecology Science Vol.38 No.7

1994년 1월부터 6월까지 연세의료원 산부인과에 내원한 항암약물요법 및 방사선치료를 받지 않은 자궁경부암환자 20명과 대조군으로 양성부인과 환자 10명을 대상으로 말초혈액 임파구 의 coxiella burnetii 감염을 anti-coxiella rabbit혈청을 이용한 간접 면역형광항체법으로 검사하여 자궁경부암 환자에서 의 coxiella burnetii 감염정도를 알아보았으며 이를 대조군과 비교하 였고 자궁 경부암 환자중에 감염군과 비감염군에 대해 암 파급정도(임상병기), 세포형태, 종 양표지물질 등을 비교하여 다음과 같은 결과를 얻었다. 1. 자궁경부암환자 20명중 5명에서 말초혈액임파구의 coxiella burnetii 감염이 확인되었으며 이중 1명은 현성감염의 증상을 나타내었고, 4명은 불현성 감염상태였다. 대조군 10명은 모두 coxiella burnetii 감염 음성이었으나 두 군간에 통계적으로 유의한 차이는 없었다. 2. coxiella burnetii 감염으로 나타난 5명의 말초혈액 임파구에서 모두 털세포변형이 관찰되었 으나 범혈구감소증, 간비장 증대 등 털세포백혈병의 임상적 특징을 보인 예는 없었다. 3. 자궁경부암 환자중 coxiella burnetii 감염군과 비감염군감에 암파급(임상병기), 세포형태, 종양표지물질을 비교한 결과 통계적으로 유의한 차이는 없었다. 이상의 결과로 자궁경부암 환자에서의 coxiella burnetii 감염이 대조군과 비교하여 통계적 유 의성은 없었으나 그 빈도가 증가되어 있는 것을 확인하였으며 자궁경부암의 예후인자들과 coxiella burnetii 감염간에 유의한 상관관계는 없는 것을 알 수 있었다. Q fever is a worldwide zoonosis caused by the rickettsial organism coxiella burnetii, and obligate intracellular organism, living in the phagolysosome of infected cells. coxiella burnetii is extremely infectious for human and animal and it is responsible for both acute and chronic diseae. As in other infections with intracellular parasites, host defence in Q fever is dependent on cell-mediated immunity in which T cells enhance the microbicidal action of macrophages. Recently several cases of Q fever arising in the patient with immunocompromised conditions including malignacy have been reported but little attention was given to the cancer patients with Q fever. The purpose of this study was to investigate the presence of serum coxiella burnetii antigen in cervical cancer patients and to compare the prognostic factors of stage, cell type and tumor markers in coxiellemia and non-coxiellemia cervical cancer patients. With use of rabbit antiserum to coxiella burnetii as first antibody and a fluorescein isothyiocyanate-conjugated antiserum to rabbit immunoglobulin as secondary antibody. coxiella burnetii was examined by immunofluorescence method in 20 cervical cancer patients and 10 controls(benign gynecologic disease). Coxiellemia was found in 25% of cervical cancer patients and 0% of controls respectively but statistically showed no significant difference(p$gt;0.05). Also there was no significant difference in stage , cell type, SCC antigen level and urine polyamine between coxillemia and non-coxiellemian cervical cancer patients. In conclusion, We found that 25% of cervical cancer patients were diagnosed as coxiella burnetii infection even though majority of patients did not have clinical symptoms of Q fever. And coxiella burnetii infection was not correlated with stage, cell type and tumor markers in cervical cancer.