No abstract available.
Prenatal Diagnosis*

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.
Diagnosis* ; DNA* ; Factor IX* ; Hemophilia A* ; Hemophilia B* ; Humans ; Molecular Biology* ; Parents ; Polymerase Chain Reaction ; Prenatal Diagnosis ; Restriction Mapping

No abstract available.
Female ; Fetal Heart* ; Heart Rate, Fetal* ; Meconium* ; Pregnancy

No abstract available.
Trophoblastic Neoplasms* ; Trophoblasts*

OBJECTIVES: Chromosomal anomalies are common disease entity among genetic diseases. But there are scanty reports about the status of chromosomal abnormalities in Korean. In addition, the comprehensive multi-center study of chromosomal abnormalities in Korean has never been performed. METHODS: We have collected 1,793 cases (394 abortuses; 198 chorionic villi; 1,060 amniotic fluid cells; 141 fetal blood), which showed abnormal karyotype results from twenty three cytogenetic centers in Korea from the year of 1977 to 1999. RESULTS: In abortuses, numerical chromosomal abnormalities was 85%, and structural abnormalities was 13% and the most frequent anomaly was trisomy 16. In chorionic villi, numerical anomaly was 60.0% and structural anomaly was 31.3% and the most frequent karyotype was Down syndrome. In amniotic fluid cells, structural anomaly exceeded the number of numerical anomaly and the most frequent anomaly was Down syndrome. In fetal blood, numerical anomaly was 63.8% and the most frequent karyotype was trisomy 18 (23.4%) CONCLUSIONS: This may be the first comprehensive and multi-center study in Korea. The proportion of the abnormal karyotypes in each specimens was different from each other. Based on this study, the more comprehensive study should be performed to all the Korean population.
Abnormal Karyotype ; Amniotic Fluid ; Chorion* ; Chorionic Villi* ; Chromosome Aberrations ; Cytogenetics ; Down Syndrome ; Female ; Fetal Blood* ; Karyotype ; Korea ; Trisomy

FISH is suggested as a possible method to detect the numerical and structural abnormalities of chromosomes in interphase nucleus. We performed this study to discuss the clinical usefulness of FISH in uncultured amniocytes and to set up the cut-off value for further study. We collected amniotic fluid samples from patients whose chromosome studies were recommended due to screen positive for Down and Edword syndrome in triple marker test using maternal serum. The centromeric probe for chromosome 18 and the locus-specific probe for chromosome 21 were used and the results were compared to their karyotypes. We could find 2 cases of trisony 21 and 2 cases of trisony 18 and the other cases represented normal karyotypes. The accuracies were 91% for disomy 18, 89% for trisomy 18, 92% for disomy 21 and 88% for trisomy 21. Therefore FISH technique is a possible method to detect the chromosomal abnormalities in uncultured amniocytes and the use of locus-specific probe for chromosome 21 would be more useful for detecting the aneuploidy of chromosome 21 than 13/21 centromeric probe.
Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 21 ; Down Syndrome* ; Female ; Fluorescence* ; Humans ; In Situ Hybridization* ; In Situ Hybridization, Fluorescence ; Interphase ; Karyotype ; Trisomy

In order to maintain the donation of the human bodies required for medical education and research, we investigated social characteristics of those who have signed up to the donation program. The data registered in Chungbuk National University were analyzed and then compared to those registered in 9 of other universities in Korea. In addition, a telephone survey was performed for 128 registrants of Chungbuk National University. The number of registrants was rapidly increased after 1999 and the donation of body was sufficient for medical education and research after 2005. The number of registrants of Chungbuk after 2005 shows gradual increase whereas 10 other schools shows slight decrease. The age of registrants at signing up to the program showed the largest proportion in seventies (33.9%), followed by sixties (28.9%) and fifties (22%). Multiple registration which means two or more registrants from one family represented 40.9%. After the use of cadaver and cremation, most of the bereaved family preferred to keep and visit the cremains in the charnel house of medical school more than to carry out the school. By the telephone survey, 71% of the registrants answered they are in middle or upper middle class of living, and 77% responded that the motivation was voluntary for the society without any reward. Based on the present results we could expect the body donations will reasonably maintaine. Most of dornors have pure motivation without any reward from the school. Keeping their cremains at charnel house of the medical school were strongly favored so it is important to make enough facilities and management system as well.
Cadaver ; Cremation ; Education, Medical ; Human Body ; Humans ; Korea ; Motivation ; Reward ; Schools, Medical ; Sociology ; Telephone

OBJECTIVE: The cytogenetic analysis for earlier detection of fetal chromosome aneuploidies is performed from chorionic villus using either long-term culture or direct chromosome preparation. To analyze the cause of pregnancy loss, we also attempt the cytogenetic study in product of conception(POC) using chorionic villi or fetal tissue. But the failure of analysis often occurs in direct preparation of villus cells and product of conception(POC). We studied to evaluate the clinical usefulness of FISH in uncultured chorionic villus cells of culture-failed cases. METHODS: According to the patient's indication, we performed FISH for chromosome 18, 21, X and Y in chorionic villi as well as POC and compared FISH results with their chromosomal studies. RESULTS: We found one trisomy 18 and one trisomy 21 in Chorionic Villus Sampling and one trisomy 18 and one monosomy X(45, X) in POC. The averages for accuracy of FISH were 83-91% and all cases are represented consistent results with their chromosomal studies. Among them, we could analyze using FISH only in 5 cases of culture failure including one case of monosomy X in POC. CONCLUSION: We could detect aneuploidy with uncultured chorionic villus cells in case of culture failure, using FISH, it may be the potential method to assist the cytogenetic study.
Aneuploidy ; Chorion* ; Chorionic Villi Sampling ; Chorionic Villi* ; Chromosomes, Human, Pair 18 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Female ; Fetus ; Monosomy ; Pregnancy ; Trisomy ; Turner Syndrome

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.
Amelogenin ; Blood Circulation ; DNA ; Erythroblasts ; Erythrocytes ; Female ; Fetus ; Humans ; Male ; Mass Screening ; Micromanipulation ; Mothers ; Polymerase Chain Reaction ; Pregnancy ; Pregnant Women ; Y Chromosome

A prospective study was initiated to compare maternal serum concentration of CA-125 during the first trimester of normal and abnormal pregnancies. Serum specimens were obtained from 87 women with a normal intrauterine pregnancy and 47 women with abnormal pregnancies which were ended in spontaneo abortion or pathologically confirmed to be missed abortion. In normal pregnancies, the mean serum CA-125 concentrations were increased significantly from amenorhea 6 weeks (139.838.7 IU/ml), and were higher statistically than the values tested in the same weeks of abnormal pregnancies. In abnormal pregnancies serum CA-125 concentations were relatively lower than those of normal pregnancies. But these differences were not statistically significant except the values tested in amenorhea 6weeks. So serum levels of CA-125 may not be proved useful in monitoring of early pregnancies outcome.
Abortion, Missed ; Female ; Humans ; Pregnancy ; Pregnancy Trimester, First* ; Pregnancy* ; Prospective Studies