혈우병 A가족에 대한 분자유전학적 연구

정성노(SR Chung),이노범(NB Lee),문형(H Moon),이춘근(CK Lee),유명수(MS Lyu),김창열(CR Kim),이항(H Lee),김용석(YS Kim),고재경(JK Koh) 대한산부인과학회 1992 Obstetrics & Gynecology Science Vol.35 No.7

Blood specimens from 20 cases of hemophilia A familes and 9 normal women were obtained to determine the frequency of restricion fragment length polymorphisms associated with the factor Ⅷ; C gene by probe DX13. The minimum number of the independent alleles was at least 39. 1. The two fragments were identified by probe DX13. The A1 allele showed the 5.8Kb fragment and the A2 allele the 9Kb fragment. 2.Of the nine families tested, four(44.4%) were found to be informative because the RFLPs were shown and the remaining five(55.6%) uninformative. 3. The frequencies of A1 and A2 allele were 36%(14/39) and 64%(25/39), respectively. 4. Polymorphism information content was 0.46. The above results indicate that restriction enzyme analysis with prove DX13 is very informative and could be utilized for carrier detection and prenatal diagnosis of hemophilia A in Korean population.

습관성유산부부에서 발견된 전좌에 관한 연구

정성노(SR Chung) 대한산부인과학회 1992 Obstetrics & Gynecology Science Vol.35 No.4

Retrospective analysis of chromosomal abnormalities was performed on 210 individuals who had recurrent spontaneous abortion. Karyotyping of their peripheral blood lymphocytes was made on 110 patients and 100 their husbands. The overall incidence of translocations was 3.3% (7/210). Number of translocations in wives were five ; 45, XX, t(15 : 15), 45, XX, t(13 :15), 46, XX, t(4 : 15), (7 : 17), 46, XX, 5(9 : 17), 46, XX, t(6 : 7). Another translocation were found in 2 husbands ; 46, XY, t(11 : 18), 46, XY, t(18 : 22). The origin of each translocations were classified as De novo in 3 patients, familial in one, and unknown in 3 cases. The incidence of reciprocal translocation (2.4%) was higher than that of Robertsonian translocation(1.0%). This study suggests that type of translocations should be emphasized in genetic counseling and in evaluation of recurrent spontaneous abortion.

탐침 DX13, St14.1, F814와 p482.6에 의한 혈우병 A보인자 및 환자진단에 관한 연구

정성노(SR Chung),신성수(SS Shin),이재억(JA Lee),이춘근(CK Lee),조율희(YH Cho),유명수(MS Lyu) 대한산부인과학회 1994 Obstetrics & Gynecology Science Vol.37 No.7

Homophilia A is one of the most common diseases caused by a coagulation-defect. It is caused by the deficiency of factor VIII and is inherited as X-linked recessive. During the past several years, diagnostic methods of hemophilia A have been developed considerable, but they merely measured the activity of factor VIII in the blood of the carriers and suspected fetuses. But even in carriers, if the factor VIII of the normal X chromosome is activated and the factor VIII of the abnormal X chromosome, inactivated (Lyon theory), the expressed factor VIII is no different from those of normal women, making it of little use in the diagnosis of the disease. In such cases, the diagnosis of the disease can only be made by investigating the sequence of the genomic DNA in hemophilia A. In this study, the restriction fragment length polymorphisms and polymorphic information content in Koreans were investigated by using four probes : two extragenic probes, DX 13 and St14.1 and two gene-specific, F814 and p482.6. The results were compared to decide on which probe should be used first, in the diagnosis of hemophilia A carriers and patients. The accuracy and the information content when using the probes in combination were also studied. 1. Probe DX 13: The allele(A1 and A2) frequencies were 36% and 64% respectively and the polymorphism in formation content, 0.46. 2. Probe St.41.1: The allele(B1 to B10) frequencies were 71% in the multiallelic system and 45% in the biallelic system. The heterozygote frequency was 80%. 3. The allele frequencies of BclI(F814) were 79.47% and 20.53%, and the information content, 0.33. 4. The allele frequencies of XbaI(p486.2) were 60.93% and 39.07%, and the information content, 0.48. The information content was 0.63 when using both probes. 5. Using both the DX 13 and St14.1 probes, the information content was 92.4%. When using all four probes, it was possible to diagnose 19 out of 20 families(97.1%), with an accuracy of 99.8%. Therefore the use of all four probes can catually be used in the diagnosis of a hemophilia A family. 6. The diagnostic accuracies of each probe were as follows: 99.8% in F814 and p482.6, 98% in St14.1 and 95.5% in DX 13. But, if we are to investigate the feta status in a homophilia A carrier mother in an out-patient clinic promptly, we should choose the St14.1 probe first because the information content can be as high as 86%. 7. Therefore, the prenatal diagnosis of hemophilia A in 19 out of 20 families can be made with an accuracy of 99.8%, Using four probes: two extragenic(DX 13 and St14.1) and two gene-specific(F814 and p482.6).

음부포진에서 Herpes Simplex Virus 배양 및 면역형광검사

정성노(SR Chung),김영태(YT Kim) 대한산부인과학회 1992 Obstetrics & Gynecology Science Vol.35 No.9

Herpes genitalis is probably more prominent today than any other sexually transmitted disease. Type 2 virus accounts for most infections seen; however, type 1 infections are reported more and more often as time pases. Viral isolation is the most sensitive and specific technique for esterblishing the diagnosis of herpes virus(HSV) infection. In this study the positivity rate of HSV culture was investigated in asymptomatic gravidas and gynecologic patients. In patients with positive HSV cultures, the typing for HSV by direct immunofluo- rescent stain was carried out. The results were as follows; 1. The positivity rate of HSV culture in obstetric patients and gynecologic patients was 3.4%(2/58) and 20.0%(14/70), respectively. There was no significant difference as compared to 5.3%(1/19) of control group (p>0.05, p=0.2922). 2. Isolation rate was 31.8%(7/22) in gynecologic patients with ulcer or vesicle-like lesion and 15.4%(2/13) in patients with cervical cancer. However, all of them had no statistical significance as compared to control group (p=0.1189, p=0.5649). 3. Over 88% (16/18) of HSV isolates were recovered within three days, 72.2%(13/18) by two days and 27.8%(5/18) by one day. 4. Of 17 patients with positive cultures, HSV type 1, HSV type 2 and mixed infections was 17.7% (3/17), 94.3% (16/17) and 11.8%(2/17), respectively.

저위험 포상기태와 고위험 포상기태의 임상적 비교 관찰

정성노(SR Chung),유중배(JB Yoo),김문신(MS Kim),김두상(DS Kim) 대한산부인과학회 1981 Obstetrics & Gynecology Science Vol.24 No.12

1978년 4월부터 1981년 7월까지 한양의대 산부인과학교실에서 포상기태로 치료를 받고 추적 검사에 응하여 완전치유를 확인한 40예를 대상으로 위험인자의 유무에 따라 저위험군 21예 와 고위험군 19예로 분류하여 양군에 대한 임상증후 검사성적 및 치료를 중심으로 비교 관 찰하여 다음과 같은 결론을 얻었다. 1. 평균연령은 저위험군이 26.8세, 고위험군이 31.4세였다. 2. 평균분만수는 저위험군이 1.0, 고위험군이 2.1이었으며 분만회수는 3회이상의 경우는 고위 험군에서 5배나 많았다. 3. 임신기간은 저위험군이 평균 21.9주, 고위험군이 평균 15.3주였으며 전자는 대부분이 임신 17주이후, 후자는 임신 16주 이전에 진단되었다. 4. 임신연령에 대한 자궁의 크기는 저위험군의 15예(71.4%)가 small for date인 반면 고위험 군의 10(52.6%)가 large for date로 서로 대조를 이루었다. 5. 고위험군에서는 난소낭종이 7예(36.8%) 임신중독증이 4예(21.1%)에서 발생되엇으나 저위 험군에서는 상기 합병증이 발생되지 않았다. 6. 치료전 hCG치는 고위험군의 5예(26.3%)에서 24시간 뇨중 100000IU/l이상이엇다. 7. ABO 혈액형은 저위험군 B형이 11예(52.4%) 고위험군중 A형이 10예(52.3%)로 가장 많았 다. 8. 치료방법은 소파 및 화학요법은 양군 약 50%로 비슷한 빈도이나 고위험군에서는 소파만 으로 끝난 것이 3예(15.8%)로 월등히 적은 반면 자궁적출은 6예(31.6%)에서 시행되었다. 9 치료호 hCG치가 1log, 하락하는데 소요기간은 18일 이상인 경우가 저위험군의 3예(14.3%) 에 비해 고위험군에서는 11예(57.9%)였다. 10. hCG-B의 소실기간은 저위험군은 평균 37.2일 고위험군은 평균 62.9일이었다. 1. The mean ages were 26.8year in the low-risk group and 31.4 in the high-risk group. 2. The mean parities were 1.0 in the low-risk group and 2.1 in the high risk one. 3. The average gestational duration were 21.9 weeks in the low risk group and 15.3 in the high-risk one. the former was diagnosed mostly before 16th week. 4. The uterine sizes were small for date in 15 cases (71.4%) of the low-risk group and large for date in 10 cases (52.6%) of the high-risk one. 5. ovarian cystic enlargement were noted in 7 cases (36.8%) and toxemic signs in 4 cases (21.1%) of the high-risk group, while none of these were found in the low-risk one. 6. In 5 cases (26.3%) of the high-risk group 24 hours urine hCG levels prior to the treatment were above 100,000 IU/ml 7. Of the ABO blood types , B types were the most frequent with 11 cases (52.4%) in the low-risk group and A types the most frequent with 10 cases (52.3%) in the high risk one. 8. In the treatment modalities, while suction curettage only and suction curettage with chemotherapy were performed for all the cases of the low-risk group, suction curettage only nad suction corettage with chemotherapy were done in 13 cases (68.4%) and hysterctomy or/and chemotherapy in 6 cases (31.6%) of the high-risk group. 9. The duration of more than 18 days for hCG titers to fall 1 log. after the intiation of therapy were noted in 3 cases (14.3%) of the low-risk group and in 11 cases (57.6%) of the high-risk one. 10. The average duration of negative conversion of serum beta-hCG were 37.2 days in the low-risk group and 62.6 days in the high-risk one.

혈우병 A 산전진단을 위한 유전자특이탐침 F814와 p482.6의 다형현상에 관한 연구

정성노(SR Chung),김성진(SZ Kim),이재억(JA Lee),이춘근(CK Lee),류명수(MS Lyu),조율희(YH Cho) 대한산부인과학회 1994 Obstetrics & Gynecology Science Vol.37 No.9

A number of restriction fragment length polymorphisms (RFLPs) have been found in and around the gene for clotting factor VIII and some of these polymorphic markers are sucessfully applied to linkage analysis of hemophilia A family. In this study, we analysed on hundred and fifty one unrelated normal X chromosomes (49 males and 51 females) to determine the frequency of alleles for F814/BclI and p482.6/XbaI RFLPs within FVIII: C gene in Koran population. The BclI and Xbal polymorphic sites are reside in intro 18 and intron 22 of FVIII gene, respectively. The hybrid probe called F814 detect in BclI digests both the DXS52 multialleic polymorphism and the FVIII RFLP. The allele frequencies of FVIII/BclI poly morphism detected by this probe were 79.47%(al, 0.87kb) and 20.5%(a2, 1.16kb). Using the probe p482.6 and restriction enzyme Xbal and KpnI revealed two allele polymorphisms in a frequency of 60.93% (b1.1.4kb) and 39.07%(b2, 6.2kb). The polymorphism information contents (PIC) estimated from each gene frequencies were 0.33 for BclI and 0.48 for Xbal RFLPs. The BclI and Xbal heterozygote rates observed in 51 females were 39%(20/51) and 51%(26/51), respectively. 63%(32/51) of the Korean femaled evaluated were heterozygote in one or both RFLPs. Although there are some linkage desequilibrium between BclI and Xbal sites, Xbal RFLP add the informativity about 26% in which the BclI polymorphism is not informative. For the haplotypes, albl was found to be most common(61.8%) and a2b1 was rare(1.6%). The above results indicate that these two intragenic probes are very useful for prenatal diagnosis of hemophilia A and for detection of its carriers in Koran population as in other ethnic groups.

음부포진

정성노(SR Chung) 대한산부인과학회 1987 Obstetrics & Gynecology Science Vol.30 No.4

음부포진은 plague의 형태, serology, 감염된 세포의 polypeptides, DNA density, DNA restriction endonclease분석, 전자현미경 등으로 구분될 수 있는 type 1(HSV-1)과 type 2(HSV-2)의 두가지 Herpes simplex viruses 감염에 의하여 유발된다. type2는 성적접촉으로 감염되고 음부포진에의 원인균중 대부분을 차지하며 type1은 이술, 손, 구강과 눈등 주로 신제 상부에 호발하나 음부포진 1차 감염의 원인에서도 약 4-37%를 점하며 주로 구강 성기-성기 접촉에 의하여 감염된다. 최근 20년간 전세계적으로 음부포진의 빈도가 급증하는 요인은 다수의 성동반자를 갖고 첫 성경험 연령이 연소해지는 성적활동의 변화에 기인한다. 그 외의 요인으로 일단 음부포진에 감염되면 완치시킬 수 있는 약제가 없으며 증세가 발현 안되는 예에서도 신경절에 잠복하면서 균을 계속 방출하여 재발 및 타인에게 감염시킬 수 있기 때문이다. 일부 저자들은 음부포진이 성병중 가장 많은 원인균이며 이들 예의 4-8%에서 바이러스성 뇌막염등 심각한 합병증을 야기한다고 보고 하고 있어 임상적으로 가장 중요한 성병으로 주목하고 있다. 그러나 국내에서는 확진 방법인 헤릌페스 바이러스의 조직배양이 되어지지 않고 따라서 정확한 화자발생 통계도 없다. 이에 저자는 음부포진의 임상적인 중요성, 진단, 치료 및 예방에 관하여 문헌을 참조하여 간략하게 서술하였다.

비정상 임신 중기 혈청 태아 당단백치를 보이는 산모에서 태아 염색체 이상의 빈도 및 주산기 예후에 관한 연구

김종호(JH Kim),정성노(SR Chung),김승룡(SR Kim),황정혜(JH Hwang),황윤영(YY Hwang),이춘근(CK Lee),조율희(YH Cho) 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.4

Purpose: The purpose of this study was to investigate the incidence of fetal chromosomal abnormality and perinatal outcome in pregnancy with unexplained midtrimester abnormal maternal serum alpha-fetoprotein (MSAFP) level. Methods: Eighty eight patients with high (> 2.5 MoM) (n=42) or low (< 0.5 MoM) AFP (n=46) but without any abnormal fetal sonographic findings underwent amniocentesis at 14∼20 weeks of pregnancy at the department of Obstetrics and Gynecology, Hanyang university hospital between January 1992 and June 1997. Their chromosomal analyses and perinatal outcomes were reviewed retrospectively. Results: The incidence of abnormal karyotyping was 3.4% (3/88). In high MSAFP group, it was 2.4% (1/42) and in low MSAFP group, it was 4.3% (2/46). Three abnormal karyotypes were 47 XXY, 46 XX inv (9), and 46 XY inv (9). Abnormal perinatal outcomes were found in 20.5% (18/88). In high MSAFP group, one congenital anomaly (2.4%), 2 intrauterine fetal deaths (4.8%), 4 IUGRs (9.5%), 2 PIHs (4.8%), 3 preterm deliveries (7.1%) were found. In low MSAFP group, 1 intrauterine fetal death (2.2%), 2 IUGRs (4.4%), 1 PIH (2.2%), 1 LGA (2.2%) were found. Conclusion: The risk of chromosomal abnomality were increased 4∼7 times in patients with unexplained abnormal AFP level. So, amniocentesis and fetal karyotyping are recommended for these patients. Furthermore, close observation were needed for pregnancy with abnormal MSAFP because perinatal outcomes were poorin this group.

정상임신 , 자궁외임신 및 계류유산에서의 Transforming Growth Factor β1 , β2의 발현

황정혜(JH Hwang),김승룡(SR Kim),문영진(YJ Moon),박문일(MI Park),정성노(SR Chung),문형(H Moon),이재억(JA Lee),황윤영(YY Hwang),장세진(SJ Jang),박용욱(YW Park) 대한산부인과학회 1997 Obstetrics & Gynecology Science Vol.40 No.5

Objectives: This study have demonstrated that transforming growth factor TGF-βs(TGF-β 1 and TGF β2) may play an important role in implantation and also to determine the defferences of in the decidua and placenta between normal pregnancy, ectopic pregnancy, and missed abortion. Methods: We have studied the expression of TGF-β1 and TGF-β2 by immunohistochemical staining method in the decidua trophoblasts of normal early pregnancy, ectopic pregnancy, and missed abortion. Results: In the epithelial cells and decidua, TFG-β1 was moderately expressed in the normal pregnancy and weakly expressed in the ectopic pregnancy. But TGF-β1 was not expressed in missed abortion. In contrast, the epithelial expression of TGF-β2 was moderately in all groups and there are no differences among the groups. And in the decidua, TFG-β2 was moderately expressed in the normal pregnancy and missed abortion and was weakly expressed in the ectopic pregnancy. In the trophoblasts, TFG-β1 was weakly expressed in all groups and TGF-β2 was moderately expressed in all groups that are no differences among the groups. Conclusions: These findings suggest that TGF-β2 may have an important role in decidua during pregnancy, especially normal pregnancy. These could indicate that the presence of troplablast and/or hormonal milieu of normal pregnancy resulted in the expression of TGF-βs, particularly TGF-β1.

자궁내 발육지연아를 동반한 임신중독증 산모 태반조직의 단백질 및 핵산함량의 동태에 관한 연구

박문일(MI Park),정성노(SR Chung),강길전(KC kang),조수용(SY hough),김두상(DS Kim) 대한산부인과학회 1982 Obstetrics & Gynecology Science Vol.25 No.3

본 연구는 임신중독증에 있어서 자궁내 발육지연아의 원인을 규명하고자 태아의 각 장기의 발육을 대신하여 태반의 발육의 정도를 조사하였다. 즉 정상산모 8예를 대조군으로, 발육지연아를 동반하지 않는 임신중독증 10예 및 발육지연아를 동반한 임신중독증 7예를 실험군으로 하여 태반조직의 단백질함량, DNA함량 및 RNA함량을 조사한 바 다음과 같은 결론을 얻었다. 1. 태반조직의 단백질함량 및 RNA 함량은 발육지연아를 동반하지 않는 임신중독증에서는 대조군보다 의의있는 감소를 보였고, 발육지연아를 동반한 임신중독증은 발육지연아를 동반하지 않은 임신중독증보다도 더욱 감소되어 있었다. 2. 태반조직의 DNA함량은 발육지연아를 동반하지 않는 임신중독증이나 발육지연아를 동반한 임신중독증이나 공히 대조군과 비슷하였다. 3. 임신중독증의 자궁내 발육지연아에 있어서 세포학적 수준에서 그 발육장애의 양상이 자궁-태반기능 부전증의 경우와 꼭 같으므로 결국 임신중독증에서 발육지연아의 원인은 자궁-태반 혈류량의 감소가 원인인 것으로 사료된다. In order to elucidate a causative factor of intrauterine growth retardation (IUGR) in toxemic mother, contents of protein, DNA, RNA were determined in placental tissue from toxemic patients without IUGR and toxemic patients with IUGR and were compared with those from normal pregnant women. The results obtained were as follows; 1) Protein and RNA contents of placental tissues were significantly decreased in toxemic patients without IUGR and toxemic patients with IUGR as compared with that in normal pregnant women. Also observed was a decrease in placental protein and RNA contents in toxemic patients with IUGR than in toxemic patients without IUGR. 2) No significant changes were observed in DNA contents of placental tissue in all groups of patients studied. 3) Chemical changes do occur in the placental tissues of toxemic mother with IUGR with respect to protein and RNA. But cell number of the placental tissue was not changed. This suggested that reduction of cell size may attributed to the decreased uteroplacental blood flow.