Effects of a Cardiocerebrovascular Disease Prevention Education Program for Postmenopausal Middle-aged Women

PURPOSE: This study was conducted to examine effects of a cardiocerebrovascular disease (CVD) prevention education program on knowledge, self-efficacy and health behavior among postmenopausal middle-aged women. METHODS: A non-equivalent control group pretest-posttest design was used. Participants were 53 postmenopausal middle-aged women who registered in two community culture centers in G metropolitan city. Experimental group (n=26) received a CVD prevention education program 8 times over 8 weeks. Knowledge, self-efficacy and health behavior of the participants were examined with self-report structured questionaries. Data were collected between October 15 and December 11, 2013, and were analyzed using chi-square test, Fisher's exact test, independent t-test, and analysis of covariance with SPSS/PC version 21.0. RESULTS: After the intervention the experimental group showed significant increases in the knowledge of CVD symptoms (p<.001) and CVD risk factors (p<.001), level of self-efficacy (p=.028) and health behavior (p<.001) compared to the control group. However, no significant difference was found between groups for knowledge of CVD prevention (p<.133). CONCLUSION: Results suggest that a CVD prevention education program can be an effective strategy to improve knowledge on CVD symptoms and risk factors, self-efficacy and health behavior for postmenopausal middle-aged women.

Complete Hydatidiform Mole with a Coexisting Fetus: A case report

Twin conceptus of a complete hydatidiform mole (CHM) and a normal fetus are rare but are important because of diagnostic difficulty, problems related to twin pregnancy, and high risk of persistent gestational trophoblastic tumor. Recently, we experienced one case of twin pregnancy consisting of a CHM and a normal fetus. A 26-year-old woman complained of vaginal bleeding. She had evidences of pregnancy-induced hypertension. A male fetus was delivered at 20 gestational weeks. The placenta demonstrated vesicles of molar change separated from normal placenta. Microscopically, the molar villi disclosed diffuse hydropic swelling with circumferential trophoblastic proliferation. DNA flow cytometric analysis showed diploid patterns in both molar and normal placental tissues. Fluorescent in situ hybridization in paraffin-embedded tissue presented that normal placental villi hybridized with X- and Y-chromosome probes (46, XY), while molar villi hybridized with X-chromosome only (46, XX). Thus, dizygotic twinning was confirmed because sex differences were shown between molar villi and normal placental villi. Follow up beta-hCG was within normal range after delivery.

Analysis of Chromosome-specific Aneusomy in Breast Tumor by Using Fluorescence in Situ Hybridization

PURPOSE: Several studies have used FISH (fluorescence in situ hybridization) to analyze aneuploids in various solid tumors. FISH, using chromosome-specific, alpha-stellite DNA probes, can be used to detect aneusomy in interphase and/or metaphase cells. The aims of this study were to compare the FISH cen tromere signals from benign breast tumors and to those from breast cancers and to evaluate the clinico pathologic parameters and the aneusomic patterns involving chromosomes 1, 11, and 17 in breast cancers. METHODS: FISH was performed on touch preparations from 15 benign breast-tumor and 29 breast-cancer specimens. The frequency of aneusomy, measured by nondisomy, was determined for chromosomes 1, 11, and 17 through the use of chromosome-specific alpha-stellite DNA probes. The frequency of chromosome- specific aneusomy was then correlated with clinicopathologic parameters, including tumor size, lymph- node involvement, estrogen receptor, and nuclear grade. RESULTS: Only one of the 15 benign breast tumors was shown to be aneusomic for chromosome 1. The other 14 cases of the benign breast tumors showed no evidence of aneusomy for any of the 3 chromosomes. In breast cancers, however, 26 of the 29 cases (90%) were exhibited aneusomy of at least 1 of the 3 chromosomes evaluated and chromosome 1 was most frequently aneusomic (26 of 29 cases (90%)). The present study also suggested a possible correlation between the numeric abnormality of chromosome 1 and estrogen receptor levels. No significant correlations with tumor size, regional lymph-node metastasis, and nuclear grade were observed. CONCLUSION: These findings suggest that chromosome-specific aneusomy is more frequently observed in breast cancers than in benign breast tumors and that aneusomy of chromosome 1 correlates with estrogen receptor levels.

Prenatal detection of de novo inversion of chromosome 9 with duplicated heterochromatic region and postnatal follow-up

We report the first de novo case of a heterochromatic duplication on the long arm of the chromosome 9, which then was pericentrically inverted at p11q13. This condition was detected prenatally and carry to term. We then performed the follow up for over 1 year. So far, there seems to be no phenotypical abnormalities.

The Diagnosis of Duchenne and Becker Muscular Dystrophy: Multiplex-PCR methods / 대한정형외과학회잡지

PURPOSE: The objective of this study is to evaluate the value of multiple-PCR as a diagnostic modality in detection of dystrophin gene deletion by observing its detection rate and concordance rate with clinical diagnosis. MATERIALS AND METHODS: Fifty-two male patients who were clinically diagnosed as DMD or BMD (Duchenne or Becker muscular dystrophy) and received multiple-PCR from 1994 to 1997 at our center were included in this study. The relationship between clinical phenotype and the location of gene deletion were studied using reading-frame rule. Dystrophin protein analysis by immunocyto-chemical technique was done in 7 cases with negative multiplex-PCR. RESULTS: Out of fifty-two patients, thirty-four were DMD and eighteen as BMD clinically. Multiplex-PCR revealed dystrophin gene deletion in 19 patients (36%) consisting of twelve DMD and seven BMD cases. The locations of the gene deletion coincide with the clinical phenotype in 17 cases (89%). Among the 7 cases that underwent dystrophin protein analysis, 3 DMD and 2 BMD were confirmed. CONCLUSIONS: Though no substantial gene deletion detection rate was observed in this study, multiple-PCR could be used as a first-line diagnostic tool in detecting dystrophin gene deletion in DMD/BMD patients based on its high concordance rate with phenotype and favorable patient compliance and convenience.

Frepuency of the Angiotensin - Converting Enzyme (ACE) Gene Polymorphism in the General Population and the Elite Endurance Students in Korea

Recintly it was reported that Insertion / Deletion polymorphism in the gene coding for Angiotensin Converting Enzyme (ACE) is asscoiated with human capacity for physical performance. This study was performed to genotyping of the ACE gene to determine the correlation between elite endurance performance and ACE I/D gene polymorphism. DNA sample was obtained from peripheral blood, hair roots and mouth epithelial cell in 739 general population and 200 elite athletic performance students. The ACE gene was amplified by polymerase chain reaction (PCR) using allele specific oligonucleotide primers. 155, 525 bp and 237 bp PCR products indicating the presence of insertion(I) and deletion(D) alleles, respectively, were clearly resolved after electrophoresis on a 2% agarose gel with ethidium bromide. Of the 200 elite athletic performance population subfects, 68(34%) showed ACE genotype 11,100(50%) genotype ID and 32(16%) genotype DD. Of the 739 general papulation subjects, 259(35.1%) showed ACE genotype 11,363(49.1%) genotype ID and 117(15.8%) genotype DD. Therefore ACE I/D gene polymorphism was not associated with human capacity for physical performance.(p>0.05)

The Study of Synergy between the BchE-k Variant and the ApoE Gene in the Alzheimer Dementia of the Korean Population

The Apolopoprotein E type 4 allele (ApoE epsilon 4) is genetically associated with the common late anset familial and sporadic forms of Alzheimer's disease. The BchE-k variant, which is the common varant of the BchE gene, has been reported to show allelic association with AD in subjects who are also carriers of the epsilon 4 allele of the ApoE, especially in subjects over the age of 75. This study was performed to evaluate the distribution of the ApoE and the BchE genotypes in the healthy and AD groups and to evaluate the synergy between the BchE-k variant and the ApoE epsilon 4 in AD. The ApoE and the BchE genotypes were determined in DNA samples from 610 healthy people and 60 LOAD patients by using ARMS by standard agarose gel electrophoresis. The effect of the ApoE epsilon 4 was closely related to AD(p<0.05). A comparison between the AD patients and the healthy individuals, both with the epsilon 4 allele, indicated an interaction between the BchE-k and the ApoE epsilon 4(p<0.05)/ The association of the BchE-k with AD was limited to carriers of the ApoE epsilon4 allele, among whom the presence of the BchE-k gave an odds ratio of AD 3.48 (95% C.I. 1.3-9.2). Therefore, these results suggested that further evidence of an association between the ApoE epsilon 4 and LOAD, and the BchE-k acts in synergy with the ApoE epsilon 4 as a susceptibility gene for AD.

Retroactive DNA analysis for sex determination and dystrophin gene by polymerase chain reaction with archived cytogenetic slides

We describe a rapid and efficient diagnostic method for sex determination and the dystrophin gene by the polymerase chain reaction (PCR) using archived cytogenetic slides. Archived cytogenetic slides stored for about 4 years at room temperature were used. To confirm whether DNA analysis is possible using the archived cytogenetic slides, we extracted the DNA from the slides and amplified the Y centromeric region (DYZ3), the X centromeric region (DXZ1) and the exon 46 of the dystrophin gene. Of the 50 cases, 24 were peripheral bloods, 13 were amniotic fluid cells, 5 were chorionic villus samplings and 8 were cord bloods. The PCR related sex determination in 22 females and 28 males, showed 100% concordance with the results of chromosome analysis, and all cases showed positive band for the exon 46 of the dystrophin gene. Of the 50 cases of the archived cytogenetic slides, we were fortunate enough to obtain the fresh blood sample from one fetus whose karyotype showed 45,X[34]/46,X,+mar[145] to compare the results of the gDNA with that from archived cytogenetic slide. To confirm whether the marker chromosome was derived from Y chromosome, we studied the six loci (PABY, SRY, RPS4Y (SY16, 17), ZFY, DYS14) on the short arm, one locus (DYZ3) on the centromere and one locus (DYZ1) on the long arm. Of the 8 loci studies, all PCR related Y chromosome showed positive band from both gDNA obtained from cord blood and archived cytogenetic slides. We could conclude from the above results that the marker chromosome was derived from the Y chromosome. We believe our experiment is rapid and efficient for studies of over 10 independent loci from a single slide which has been kept in storage for up to 4 years and that archival Giemsa-stained cytogenetic slide repositories represent valuable DNA resources for clinical and forensic studies.

Mapping of Multiple Genetic Alteration Sites of Cervical Carcinomas by Comparative Genomic Hybridization / 대한부인종양콜포스코피학회잡지

Comparative Genomic Hybridization (CGH) is a recently developed molecular cytogenetic technique, which makes it possible to detect chromosomal alteration in solid tumors. To determine whether chromosome alterations are related to cervical carcinoma, we have analyzed 33 cases (24 squamous cell carcinomas and 9 adenocarcinomas, stage Ib-IIIb) from tumor tissues and paraffin embedded tissues by CGH. The cut off value of CGH profiles was 1.15 and 0.85 (green/red ratio). Chromosomal aberrations were detected in 30 out of 33 cases (90.9%). In 32 cases, chromosome 3q was most frequently affected and had greater copy numbers in 20 of tbe 33 cases (60.6%). Interestingly, out of those 20 cases, 10 cases were shown to have a high-level of amplification of chr 3q. In addition to chr 3q, chromosomal gains were observed in chr 1q, 1p, 5p, Sq, 12p, 15q, 19q, 20q, Xp, and Xq. Furthermore chromosomal loss was detected, most commonly in chromosome 11q (11/33). Although less frequent, common losses were also detected in chr 2q, 4p, 4q, Sq, 1 1p, 17p, and 18p. In addition, there were cases of gross chromosome loss for chr 4, 6, 10, 11, 13, 14, 16, 17, 18, 19, 20, 21, 22 and X. In cases involving whole arm deletion, we utilized fluorescence in situ hybridization (FISH) using specific probes a-satellite. We performed HPV typing for 16 and 18 usiag polymerase chain reaction (PCR) and Southem blot analyses. Out of 33 tumor samples, 24 cases (72,7%) were HPV 16 positive, while only 6 cases were positive for HPV 18. two cases were positive for both HPV 16 and 18. We believe that a gain of chromosome 3q as a reeurrent chromosomal aberration may contribute to the tumorigenesis of cervical cancer. However, we could not correlate a pattern of chromosomal aberration with tumor stage or histologic type in cervical cancer.

Prenatal Diagnosis of the Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

Prenatal diagnosis of the spinal muscular atrophy type I using genetic information from archival slides and paraffin-embedded tissues

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

The Frequency of Chromosomal Abnormalities and the Prenatal Cytogenetic Analyses for Couples with Recurrent Abortions

Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.

Comparative Genomic Hybridization Analysis of Fetal Chromosomal Aberrations

Comparative genomic hybridization (CGH) can now be applied to detect the origin of extra or missing chromosomal material in cases with common unbalanced aberrations and in prenatal investigations. This method has been used in 13 cases of fetal samples for this study; 3 for amniocytes, 2 for cord blood and 8 for abortus tissues. These samples were previously subjected to GTG-banding. Our study showed aneuploidy in 8 cases, and partial monosomy, partial trisomy or marker chromosome in the remaining 5. The CGH disclosed further small genetic imbalances in 4 of all 13 cases: a prenatal sample showing del(20)(q13) by GTG confirmed a loss of the segment 20p13-pter by CGH; a marker chromosome manifested normal CGH profile; chromosome der(?)(?;15) found in an abortus sample by GTG turned out to be a loss of 15pter-q14 (partial monosomy) and a gain of 10pter-q22 (partial trisomy); the der(15) shown by GTG represented partial trisomy of 3q24-qter. These findings show that CGH is very useful and efficient for cytogenetic investigations of clinical cases.

Molecular and Cytogenetic Findings in 46,XX Males

This paper reports 3 cases with 46,XX sex reversed male. Three 46,XX hypogonadal subjects showed complete sex reversal and had normal phallus and azoospermia. We studied them under clinical, cytogenetic and molecular aspects to find out the origin of the sex reversal. Patients had markedly elevated serum follicle-stimulating hormone (FSH) and lutenizing hormone (LH) and decreased or normal range of serum testosterone. The testicular volumes were small (3-8ml). Testicular biopsy showed Leydig cell hyperplasia and atrophy of seminiferous tubules. We obtained the results of normal 46,XX and XY dual fluorescent in situ hybridization (FISH) which could rule out the presence of Y chromosome mosaicism. By using polymerase chain reaction (PCR), we amplified short arm (SRY, PABY, ZFY and DYS14), centromere (DYZ3), and heterochromatin (DYZ1) region of the Y chromosome. PCR amplification of DNA from these patients showed the presence of the sex-determining region of the Y chromosome (SRY) but didn't show the centromere and heterochromatin region sequence. The SRY gene was detected in all the three patients. Amplification patterns of the other regions were different in these patients; one had four amplified loci (PABY+, SRY+, ZFY+, DYS14+), another had two loci (SRY+, ZFY+) and the other had two loci (PABY+, SRY+). We have found that each patient's translocation elements had different breakpoints at upstream and downstream of the SRY gene region. We conclude that the testicular development in 46,XX male patients were due to insertion or translocation of SRY gene into X chromosome or autosomes.

Prenatal Diagnosis by Direct DNA Analysis in Facioscapulohumeral Muscular Dystrophy (FSHD) Families

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which has been clinically shown to cause progressive weakness and result in atrophy of the facial muscles, shoulder girdle and upper arm muscles. The responsible gene for the FSHD has been located on chromosome 4q35-qter. The probes p13E-11 and pFR-1 detect DNA rearrangements associated with FSHD as under 28 kb DNA fragment in genomic southern analysis digested with EcoR I and the fragment contains 3.3 kb Kpn I tandem repeats. In this study, 4 fetuses with a family history of FSHD were analysed by genomic southern hybridization analysis with probes to determine whether they carried the deleted region. Of the 4 fetuses, three of them had mothers who were FSHD patients and the other one had a father affected with FSHD. After 10-11 weeks of gestation, we performed chorionic villi sampling and extracted DNA from uncultured and cultured tissue cells for the direct DNA analysis. The result of the southern analysis showed two fetuses having received about 15-18 kb of deleted genes from the father and the mother respectively, and found to be FSHD patients. The other two fetuses were shown to have two normal alleles from the parents and found to be normal. Two pregnancies which were determined to be normal were carried to term delivering two healthy babies.

Analysis of haplotype and coamplification PCR of dystrophin gene and Y-specific gene using PEP-PCR in single fetal cells

Duchenne and Becker muscular dystrophy are the major neuromuscular disorders with X-linked recessive inheritance. Preimplantation sex determination has been generally used to avoid pregnancies with these diseases. However, in order to determine if the embryo is normal, carrier or affected regardless of the sex, there is a need for a combined analysis of specific exon on dystrophin gene as well as sex determination of embryo using the same biopsied blastomere. If the exon deletion is not determinable, further diagnosis of carrier or patient can be performed by haplotype analysis. In this study, we applied the primer extension preamplification (PEP) method, which amplifies the whole genome, in 40 cases of single amniocyte and 40 cases of chorionic villus cell. We analysed haplotypes using two (CA)n dinucleotide polymorphic markers located at the end of 5' and 3' region of the dystrophin gene. Exon 46 of dystrophin gene and DYZ3 on chromosome Y were chosen as a target sequence for coamplification PCR. Upon optimizing the conditions, the amplification rates were 91.25% (73/80) for haplotypes (92.5% in amniocyte, 90% in chorionic villus cell) and 88.75% (71/80) for coamplification (85% in amniocyte, 92.5% in chorionic villus cell). The result of the study indicates that haplotypes and coamplification using PEP can be applied to prenatal and preimplantation diagnosis in Duchenne muscular dystrophy making it possible to determine if the fetus is a carrier or an affected one.

Study of Seroprevalence of Antimycoplasma Antibody in Healthy Children and its Diagnostic Value

PURPOSE: To evaluate the diagnostic reliability of the single serum titers of the specific serum antibody determiantion method, we compared antimycoplasma antibody titers of 177 healthy children with 353 children who had respiratory symptoms indicative of Mycoplasma pneumoniae infection. METHODS: We used Serodia-Myco II particle agglutination test and the titers of > or = 1:40 were regarded as positive. RESULTS: Age distribution of 177 healthy children was between 4-17 years and among these children there were 105 males and 75 females. Age distribution of 353 children with respiratory symptoms was between 2-17 years and consisted of 187 males and 166 female children. The results of antimycoplasma antibody titers of healthy 177 children were 95 cases (53.7%) of negative AMA, 30 cases (16.9%) of 1:40, 27 cases (15.3%) of 1:80, 19 cases (10.7%) of 1:160, 6 cases (3.4%) of 1:320 and there were no cases of > or = 1:640. The results of antimycoplasma antibody titers of 353 children with respiratory symptoms were 195 cases (55.2%) of negative antimycoplasma antibody 19 cases (5.4%) of 1:40, 28 cases (7.9%) of 1:80, 30 cases (8.5%) of 1:160, 33 cases (9.3%) of 1:320, and there were a total of 48 cases (13.6%) that were > or = 1:640. In healthy children the antimycoplasma antibody titers above 1:40 were 14% at 4 years of age, 7% at 5 years, 40% at 6 years and leveled out until 16 years of age. CONCLUSION: Antimycoplasma antibody titer distribution in healthy children ranged from negative to 1:320, therefore, if the single serum sample titer is < or = 1:320, for a definitive diagnosis it is necessary to compare antibody levels after 2-3 weeks.

The CTG Repeat Polymorphisms of Myotonic Dystrophy (DM) Gene in Korean Population

Myotonic dystrophy(DM) is caused by the expansion of CTG trinucleotide repeat near the 3' end of the gene encoding for a member of protein kinase gene family (DMPK). The normal range of the CTG repeat was determined in 178 nomal individuals (141 unrelated individuals and 37 of 9 families) by polymerase chain reaction (PCR), polyacrylamide gel electrophoresis and silver staining method. And the expansion of the CTG repeats in a DM family was analyzed with Southern analysis. In normal population, the range of CTG repeat is between 5 and 34 and 19 different alleles were obserbed in that range, and (CTG)11-14 alleles were predominant. 4 members of an affected family showed the 0.5 - 2.0 kb size expansion of CTG repeats. In this study we could predict the incidence of DM in Korea as 1 in 20,000 and we could establish the diagnostic procedure for myotonic dystrophy.

Analyses of Dystrophin Gene and Sex Determination using PEP-PCR in Single Fetal Cells / 대한불임학회지

Recently, through the development of the primer extension preamplification(PEP) method which amplifies the whole genome, simultaneous multiple DNA analysis has become possible. Whole genome from each single cell can be amplified using 15 base oligonucleotide random primer. The greatest advantage of PEP-PCR is the ability to investigate several loci simultaneously and confirm results by analysing multiple aliquots for each locus. This technique led to the development of preimplantation genetic disease diagnosis using blastomere from early embryo, sperm, polar body and oocyte. In this study, we applied PEP-PCR in 20 cases of single amniocyte and 20 cases of single chorionic villus cell for the clinical application of the prenatal and preimplantational genetic diagnosis. We analysed 7 gene loci simultaneously which are 46, 47 exons related to dystrophin gene, two VNTR (variable number tandem repeat) markers using 5'toysIII, 3'CA related to dystrophin gene and DYZ1, DYZ3, DYS14 regions on chromosome Y. In all the tests, 97.5% of PEP-PCR amplifications with single cells were successful. We obtained 38/40 (95%) accuracy in gender determination through chromosome analysis comparison. Therefore, these results have significant implications for a sperm or oocyte analysis and prenatal or preimplantational genetic diagnosis.

Prevalence of Balanced Chromosomal Translocations in Couples with Abnormal Reproductive Outcomes and Prenatal Cytogenetic Diagnosis in the Carriers / 대한불임학회지

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.