Association study of LEP and LEPR gene polymorphisms and the development of type 2 diabetes mellitus in Korean women with a history of gestational diabetes / 대한산부인과학회지

OBJECTIVE: The history of gestational diabetes (GDM) is a high risk for the development of type 2 diabetes mellitus (T2DM). The purpose of this study is to investigate the genetic association of LEP and LEPR gene polymorphisms and the development of T2DM in Korean women of history of GDM. METHODS: Women diagnosed as GDM during pregnancy from January 1992 to December 2002 were recruited. Those women with a T2DM at the time of study were classified as T2DM positive group, and without T2DM, as T2DM negative group. 2 genes (LEP and LEPR genes) and 8 SNPs (LEP-632G>A, +4950G>A, +4998A>C, and LEPR-141013T>C, -186A>G, +5193G>A, +7187A>C, +27265A>G) were selected. The TaqMan assay for genotyping and the statistical analysis for phenotypic and genetic factors between 2 groups were analyzed. RESULTS: A total of 54 women, T2DM positive (n=20) and T2DM negative (n=34) were enrolled. At the time of diagnosis of GDM, HbA1c, 50 g and 100 g oral glucose tolerance test, and insulin level were significantly associated between T2DM positive and negative groups (P<.05). In analysis of genetic risk to T2DM, the significant association related with any SNPs was not shown between T2DM positive and negative groups. CONCLUSION: In Korean women having past history of GDM, there was no relationship between 2 genes and the development to T2DM. To clarify a effect of candidate genes related with development of T2DM, there will need more samples and genes.

Clinical Experience of 15 cases of Modified McDonald cerclage using Beriplast TM in Incompetent Internal Os of Cervix / 대한산부인과학회잡지

No abstract available.

Polymorphisms Linked to Factor IX Gene in Korean Population / 대한산부인과학회잡지

OBJECTIVE: Linkage analysis is a very useful method for prenatal diagnosis of Hemophilia B, especially when a mutation was not identified. Seven polymorphic markers were studied in Korean populations to evaluate the efficiency for prenatal and carrier diagnosis. METHODS: Subjects of this study was 100 healthy Korean women (200 X-chromosomes). Polymerase chain reacton-restriction fragment length polymorphism (PCR-RFLP) method was used to detect SalI, MseI, NruI, DdeI, XmnI, TaqI and HhaI polymorphisms. RESULTS: SalI (-) allele showed the frequency of 0.355 and SalI(+) allele 0.645. MseI(-) allele was 0.645 in frequency and MseI(+) allele was 0.355. SalI and MseI polymorphisms were in complete linkage disequilibrium. And no increase was expected in overall heterozygosity with these two polymorphisms. NruI(-) allele frequency was 0.855 and NruI(+) was 0.145. There was no polymorphism of DdeI, XmnI and TaqI marker systems in Korean population. In HhaI polymorphism, allele frequencies were estimated that HhaI(-) is 0.82 and HhaI(+) is 0.18. CONCLUSION: Only SalI, NruI and HhaI polymorphisms are useful for the diagnosis of hemophilia B in Korean population. Expected heterozygosity for above 3 poylmorphic markers was estimated to be 0.723, and 71 of 100 female subjects were heterozygous for at least one marker system. Korean population showed relatively low extent of polymorphisms compared to Caucasians, Blacks and Japanese. For the effective prenatal diagnosis of hemophilia B with linkage analysis, other polymorphic markers should be evaluated.

Diagnosis and Treatment of Fetal Cardiac Anomalies

PURPOSE: Fetal echocardiography is used for the prenatal diagnosis of congenital heart disease. Fetal echocardiography allows decisions to be made in advance where the fetal abnormality is not compatible with life after delivery or where early correction is required. Our fetal echocardiographic experience was analysed retrospectively to guide future clinical application. METHODS: 138 mothers had fetal echocardiography from April 1992 to December 1995. Their echo findings were recorded on VHS video tape. We followed up the infant after delivery. Data was collected from obstetric outpatient records and admission records, pediatric admission records and outpaitent records. RESULTS: 1)138 mothers had fetal echocardiography. Serious heart disease was found in 9 cases with a detection rate of 6.4%. Average age of the mother was 28.9+/-4.2 years (range 17-44 years). Average gestational period was 24.0+/-5.1 weeks(range 10-36 weeks). 2)Indications for fetal echocardiography were as follows; maternal factors 77 cases, including 34 cases of alpha fetoprotein abnormality. fetal factor 32 cases including 18 cases of arrhythmia, genetic factors 29 cases, including 26 cases of family history of congenital heart disease. 3)Serious cardiac anomalies were 5 cases. Serious arrhythmia were present in 4 cases(Total 9 cases with detection rate of 6.5%). Mild arrhythmia was detected in 7 cases(5.1 %). 4)The serious cardiac anomalies were mitral hypoplasia, right atrial tumor, AVSD, TOF and VSD. 5)The Serious arrhythmia were complete atrioventricular block 1 case, second degree atrioventricular block 1 case, transient cardiac arrest 1 case and atrial flutter 1 case. 6)The Mild arrhythmia were premature atrial contraction 4 cases and premature ventricular contraction 3 cases. 7)The non-cardiac anomalies were one case of hydrocephalus, cerebral arteriovenous fistula, diaphragmatic hernia, agenesis of right kidney, sacrococcygeal teratoma, fetal ascites and 4p-syndrome. There were 2 cases of spontaneous abortion without definite anomaly. During the study period, there were 8 terminations of pregnancy including 3 cases of spontaneous abortion. 8) 105 infants were followed up after birth. 25 cases were missing. CONCLUSIONS: Most of the congenital heart disease confirmed by fetal echocardiography was predicted by antenatal ultrasound. Most of the fetal echocardiography was performed to confirm the congenital heart diseas when any of the fetal abnoramlities were found. In some of the treatable heart disease, especially like fetal arrhythmia, maternal adminstration of adequate medication make a good treatment results.