The purpose of this article is to assess the value of maternal serum triple marker screening of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) for the prenatal diagnosis of fetal chromosomal abnormalities in Korean women of advanced maternal age. Maternal sera were collected from 458 pregnant Korean women aged 35 between 15 and 20 weeks gestation before amniocentesis. A patient- specific second trimester risk for fetal Down's syndrome was calculated using the median values for AFP, hCG, uE3 and maternal age. Twelve fetal chromosomal abnormalities were identified. These included six cases of trisomy 21, one case of 46,XY/47,XY,+21, two cases of trisomy 18, one case of trisomy 13, and two cases of 45, X. A cutoff level of 1:200 detected 85.7% (6/7) of the cases of Down's syndrome and 20% (1/5) of the other aneuploidies, with a 27.3% false positive rate. However, a cutoff level of 1:270 did not result in any gains in detecting Down's syndrome or other aneuploidies at the expense of a false positive rate of 34.3%. Second trimester triple marker testing is an effective screening tool for detecting fetal Down's syndrome in Korean women > or = 35 years old. However, it is not an effective screening tool for non-Down's chromosomal abnormalities.
Adult ; Chromosome Abnormalities/genetics* ; Female ; Fetus/physiology* ; Genetic Markers ; Genetic Screening* ; Human ; Maternal Age 35 and over* ; Pregnancy

OBJECTIVE: To explore the mutation of Y-STR loci in meiotic allelic transmission in a large pedigree. METHODS: The oral swabs of 163 male individuals were collected from a Lin pedigree. Twenty-two Y-STR genetic markers were typed with AGCU Y24 fluorescent detection kit (AGCU Y24 system), which also contained 16 Y-STR markers included in Yfiler multiple amplification kit (Yfiler system). The genotyping results of Y-STR loci were compared between each two males in the pedigree. RESULTS: There were 20 and 30 kinds of haplotypes obtained with Yfiler and AGCU Y24 systems in 163 male individuals from the Lin pedigree, respectively. The rates referred to haplotype differences (RRHD) of these two typing systems between male pairs were 0.910 5 and 0.922 7, respectively. The average number of marker differences were 6.582 1 and 9.824 8, respectively. The RRHD increased along with the incidents of meiosis. CONCLUSION Y-STR mutation leads to different Y-STR haplotypes among the male members in a paternal pedigree and the rate of difference increases along with the incidents of meiosis.
Alleles ; Chromosomes, Human, Y/genetics* ; DNA Fingerprinting ; Genetic Linkage ; Genetic Markers/physiology* ; Genotype ; Haplotypes ; Humans ; Male ; Mutation/genetics* ; Pedigree

In order to study the molecule mechanism of the differential expression in Dendrobium officinale under low temperature, the high cold resistance germplasms were used for constructing the RNA pools. SCoT markers were used to analyze the different cDNA pools transcribed from the RNA pools. 11 transcripts derived fragments from 500 cDNA amplified bands were amplified by 64 primers, and were sorted out, cloned, sequenced and analyzed. The results showed that cDNA pools with SCoT markers could be used for differential display in D. officinale under low temperature stress. Sequence analysis indicated that the transcripts derived fragments were significantly homologous in nucleotide sequence with membrane-associated proteins, osmotic regulation protein, CBF transcriptional factor, resistance protein. One left gene segments functions were still unknown, which may be related to the cold resistant gene expression in D. officinale.
Breeding ; Cold Temperature ; adverse effects ; Dendrobium ; genetics ; physiology ; Gene Expression Regulation, Plant ; Genetic Markers ; genetics ; Stress, Physiological ; genetics

The convergence of molecular and genetic disciplines with non-invasive imaging technologies has provided an opportunity for earlier detection of disease processes which begin with molecular and cellular abnormalities. This emerging field, known as molecular imaging, is a relatively new discipline that has been rapidly developed over the past decade. It endeavors to construct a visual representation, characterization, and quantification of biological processes at the molecular and cellular level within living organisms. One of the goals of molecular imaging is to translate our expanding knowledge of molecular biology and genomic sciences into good patient care. The practice of molecular imaging is still largely experimental, and only limited clinical success has been achieved. However, it is anticipated that molecular imaging will move increasingly out of the research laboratory and into the clinic over the next decade. Non-invasive in vivo molecular imaging makes use of nuclear, magnetic resonance, and in vivo optical imaging systems. Recently, an interest in Positron Emission Tomography (PET) has been revived, and along with optical imaging systems PET is assuming new, important roles in molecular genetic imaging studies. Current PET molecular imaging strategies mostly rely on the detection of probe accumulation directly related to the physiology or the level of reporter gene expression. PET imaging of both endogenous and exogenous gene expression can be achieved in animals using reporter constructs and radiolabeled probes. As increasing numbers of genetic markers become available for imaging targets, it is anticipated that a better understanding of genomics will contribute to the advancement of the molecular genetic imaging field. In this report, the principles of non-invasive molecular genetic imaging, its applications and future directions are discussed.
Animals ; Biological Processes ; Gene Expression ; Genes, Reporter ; Genetic Markers ; Genomics ; Molecular Biology ; Molecular Imaging* ; Optical Imaging ; Patient Care ; Physiology ; Positron-Emission Tomography

Barrett's esophagus (BE) is the only known precursor to esophageal adenocarcinoma (EAC), whose incidence has increased sharply in the last 4 decades. The annual conversion rate of BE to cancer is significant, but small. The identification of patients at a higher risk of cancer therefore poses a clinical conundrum. Currently, endoscopic surveillance is recommended in BE patients, with the aim of diagnosing either dysplasia or cancer at early stages, both of which are curable with minimally invasive endoscopic techniques. There is a large variation in clinical practice for endoscopic surveillance, and dysplasia as a marker of increased risk is affected by sampling error and high interobserver variability. Screening programs have not yet been formally accepted, mainly due to the economic burden that would be generated by upper gastrointestinal endoscopy. Screening programs have not yet been formally accepted, mainly due to the economic burden that would be generated by widespread indication to upper gastrointestinal endoscopy. In fact, it is currently difficult to formulate an accurate algorithm to confidently target the population at risk, based on the known clinical risk factors for BE and EAC. This review will focus on the clinical and molecular factors that are involved in the development of BE and its conversion to cancer and on how increased knowledge in these areas can improve the clinical management of the disease.
Adenocarcinoma/*etiology ; Animals ; Barrett Esophagus/*complications/diagnosis ; Diagnostic Imaging/methods ; Disease Models, Animal ; Epigenesis, Genetic/physiology ; Esophageal Neoplasms/diagnosis/*etiology ; Esophagoscopy/methods ; Forecasting ; Genetic Markers/physiology ; Humans ; Mice ; Practice Guidelines as Topic ; Risk Factors

Adiponectin may affect bone through interactions with two known receptors, adiponectin receptors (ADIPOR) 1 and 2. We examined the association between polymorphisms of ADIPOR1 and ADIPOR2 and bone mineral density (BMD) in postmenopausal Korean women. Six polymorphisms in ADIPOR1 and four polymorphisms in ADIPOR2 were selected and genotyped in all study participants (n = 1,329). BMD at the lumbar spine and femur neck were measured using dual-energy X-ray absorptiometry. Lateral thoracolumbar (T4-L4) radiographs were obtained for vertebral fracture assessment and the occurrence of non-vertebral fractures examined using self-reported data. P values were adjusted for multiple testing using Bonferroni correction (Pcorr). ADIPOR1 rs16850799 and rs34010966 polymorphisms were significantly associated with femur neck BMD (Pcorr = 0.036 in the dominant model; Pcorr = 0.024 and Pcorr = 0.006 in the additive and dominant models, respectively). Subjects with the rare allele of each polymorphism had lower BMD, and association of rs34010966 with BMD showed a gene dosage effect. However, ADIPOR2 single nucleotide polymorphisms and haplotypes were not associated with BMD at any site. Our results suggest that ADIPOR1 polymorphisms present a useful genetic marker for BMD in postmenopausal Korean women.
Base Sequence ; Bone Density/*genetics ; Female ; Femur Neck/physiology ; Genetic Association Studies ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Humans ; Osteoporosis, Postmenopausal/*genetics ; Polymorphism, Single Nucleotide ; Postmenopause ; Receptors, Adiponectin/*genetics ; Republic of Korea ; Sequence Analysis, DNA

AIMThe aim of this study was to confirm the multilineage differentiation ability of dental pulp stem cells (DPSCs) from green fluorescent protein (GFP) transgenic mice. The expression of GFP in DPSCs was also observed during differentiation.

METHODOLOGYDPSCs were harvested from the dental pulp tissue of transgenic nude mice, and then transferred to osteogenic, adipogenic, and chondrogenic media. The morphological characterization of induced cells was observed by microscopy and histological staining. The expression of marker genes was measured by RT-PCR.

RESULTSThe endogenous GFP and multilineage potential of transgenic DPSCs had no influence on each other. Moreover, the results of fluorescence microscopic imaging suggest that there was no significant decline of GFP expression during DPSCs differentiation.

CONCLUSIONAs the population of GFP labeled DPSCs can be easily identified, this will be a promising method for tracking DPSCs in vivo.

Adipocytes ; cytology ; Adipogenesis ; physiology ; Animals ; Anthraquinones ; Azo Compounds ; Cell Culture Techniques ; Cell Differentiation ; physiology ; Cell Lineage ; physiology ; Chondrocytes ; cytology ; Chondrogenesis ; physiology ; Coloring Agents ; Culture Media ; Dental Pulp ; cytology ; Genetic Markers ; genetics ; Green Fluorescent Proteins ; analysis ; genetics ; Mice ; Mice, Nude ; Mice, Transgenic ; Microscopy, Fluorescence ; Osteoblasts ; cytology ; Osteogenesis ; physiology ; RNA ; analysis ; Reverse Transcriptase Polymerase Chain Reaction ; Stem Cells ; cytology ; physiology ; Tissue Culture Techniques ; Tolonium Chloride

The expression of the WT-1 gene which is found exclusively in human leukemic blasts frequently disappears from bone marrow of leukemia patients in complete remission (CR). Using semiquantitative RT-PCR, we investigated the expression of the WT-1 gene in peripheral bloods (PBs) of 33 patients with acute leukemia (AML 26; ALL 7) and monitored its expression after achievement of CR. None of the 6 normal controls expressed detectable levels of WT-1 transcripts (< 10(-4), background level), whereas 31 (93.9%) of 33 patients expressed variable levels of WT-1 transcripts (range, 10(-4) to 10(1)) at diagnosis. The level of WT-1 expression was not different between AML and ALL. By monitoring WT-1 gene expression in PB of 31 patients during CR, 5 patients relapsed (two from the 18 patients with undetectable levels of WT-1 gene expression and three from the 13 with WT-1 gene expression in low levels). Three of the 5 relapsed patients showed preceding reappearance or rise of WT-1 gene expression. From these results, we reconfirmed that the WT-1 gene is a pan-acute leukemic marker, which can be used to monitor minimal residual leukemia (MRL) after chemotherapy or in patients with CR.
Gene Expression/physiology* ; Human ; Leukemia, Lymphocytic, Acute/genetics* ; Leukemia, Lymphocytic, Acute/blood* ; Leukemia, Myelocytic, Acute/genetics* ; Leukemia, Myelocytic, Acute/blood* ; Neoplasm, Residual ; Nephroblastoma/genetics* ; Polymerase Chain Reaction ; Transcription, Genetic ; Tumor Markers, Biological

Mutation or common intronic variants in cardiac ion channel genes have been suggested to be associated with sudden cardiac death caused by idiopathic ventricular tachyarrhythmia. This study aimed to find mutations in cardiac ion channel genes of Korean sudden cardiac arrest patients with structurally normal heart and to verify association between common genetic variation in cardiac ion channel and sudden cardiac arrest by idiopathic ventricular tachyarrhythmia in Koreans. Study participants were Korean survivors of sudden cardiac arrest caused by idiopathic ventricular tachycardia or fibrillation. All coding exons of the SCN5A, KCNQ1, and KCNH2 genes were analyzed by Sanger sequencing. Fifteen survivors of sudden cardiac arrest were included. Three male patients had mutations in SCN5A gene and none in KCNQ1 and KCNH2 genes. Intronic variant (rs2283222) in KCNQ1 gene showed significant association with sudden cardiac arrest (OR 4.05). Four male sudden cardiac arrest survivors had intronic variant (rs11720524) in SCN5A gene. None of female survivors of sudden cardiac arrest had SCN5A gene mutations despite similar frequencies of intronic variants between males and females in 55 normal controls. Common intronic variant in KCNQ1 gene is associated with sudden cardiac arrest caused by idiopathic ventricular tachyarrhythmia in Koreans.
Adolescent ; Adult ; Aged ; Arrhythmias, Cardiac/genetics ; *Death, Sudden, Cardiac ; Ether-A-Go-Go Potassium Channels/genetics ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genetic Variation ; Heart/physiology ; Heart Conduction System/abnormalities ; Humans ; KCNQ1 Potassium Channel/*genetics ; Male ; Middle Aged ; NAV1.5 Voltage-Gated Sodium Channel/*genetics ; Republic of Korea ; Tachycardia, Ventricular/*genetics ; Ventricular Fibrillation/*genetics ; Young Adult

Mouse embryonic stem (mES) cells are capable of undergoing chondrogenesis in vitro. To enhance this process, the human SOX9 (hSOX9) cDNA was delivered into mES cells and the clones overexpressing hSOX9 (denoted as mES-hSOX9 cells) were verified by Western blot analysis. The transcripts of collagen IIA (a juvenile form), aggrecan and Pax1 were expressed in mES-hSOX9 cells grown on feeder layers, suggesting the immediate effect of exogenous SOX9 on chondrogenesis. However, SOX9 overexpression did not affect the cell cycle distribution in undifferentiated mES cells. Upon differentiation, collagen IIB (an adult form) was detected in day 3 immature embryoid bodies. In addition, the overexpression of exogenous SOX9 significantly induced transcriptional activity driven by SOX9 binding site. Taken together, we for the first time demonstrated that constitutive overexpression of exogenous SOX9 in undifferentiated mES cells might have dual potentials to induce both chondrogenic commitment and growth capacity in the undifferentiated status.
Animals ; Cell Differentiation/genetics ; Cell Line ; *Chondrogenesis ; Collagen Type II/genetics ; Embryo/*cytology ; Enhancer Elements (Genetics)/genetics ; Extracellular Matrix Proteins/genetics ; Genetic Markers/genetics ; High Mobility Group Proteins/genetics/*metabolism ; Humans ; Lectins, C-Type/genetics ; Mice ; Paired Box Transcription Factors/genetics ; Proteoglycans/genetics ; Research Support, Non-U.S. Gov't ; Stem Cells/*metabolism/physiology ; Trans-Activation (Genetics) ; Transcription Factors/genetics/*metabolism