We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype amniotic fluid was performed on 12365 The detection rates and distributions abnormal karyotypes were observed a variety 57.4% either mother or father chromosomal abnormality, 8.5% pathological ultrasound finding (PUF), 2.79% advanced age (35 years over) 2.23% maternal serum screening (MSS) tests. Foetal found 86 PUF; women, 42 had trisomy 13,...

The purpose of the study was to construct a general model competencies required by Chinese public health physicians. This is intended lay foundation for promoting reform education in China, and may help perfect testing grading system courses.The behavioral event interviews were used collect data on knowledge, skills performance characteristics physicians coping with events. A random stratified sampling survey select professionals workers from different institutions 14 provinces...

Abstract Background Growing evidence has suggested that Type I Interferon (I-IFN) plays a potential role in the pathogenesis of Down Syndrome (DS). This work investigates underlying function MX1, an effector gene I-IFN, DS-associated transcriptional regulation and phenotypic modulation. Methods We performed assay for transposase-accessible chromatin with high-throughout sequencing (ATAC-seq) to explore difference accessibility between DS derived amniocytes (DSACs) controls. then combined...

DNA methylation is a crucial epigenetic modification of the genome which involved in embryonic development, transcription, chromatin structure, X chromosome inactivation, genomic imprinting and stability. Consistent with these important roles, has been demonstrated to be required for vertebrate early embryogenesis essential regulating temporal spatial expression genes controlling cell fate differentiation. Further studies have shown that abnormal associated human diseases including...

Background . Congenital heart defect (CHD) is one of the most common birth defects in world. The methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTRR) genes are two important candidate for fetal CHD. However, correlations between CHD were inconsistent various reports. Therefore, this study aimed to evaluate parental effects on via three genetic polymorphisms, MTHFR 677C>T (rs1801133), 1298 A>C (rs1801131), MTRR 66A>G (rs1801394). Methods Parents with pregnancy...

The underlying mechanism of recurrent spontaneous abortion (RSA) has remained elusive for many years. Several previous studies have suggested that the killer cell immunoglobulin receptor (KIR) gene family is associated with RSA, however, it not clear exactly how. present study detected KIR and human leukocyte antigen‑C (HLA‑C) genes in 110 Han Chinese women unexplained RSA 105 healthy females. aim was to determine if certain genotypes were more susceptible occurrence miscarriage. frequency...

Abstract Background The congenital stationary night blindness (CSNB) affects the patients' dim light vision or dark adaption by impairing normal function of retina. It is a clinically and genetically heterogeneous disorder can be inherited in an X‐linked, autosomal dominant recessive pattern. Several genetic alterations to genes involved visual signal transduction photoreceptors and/or bipolar cells underlie its pathogenesis. Methods In this study, we used Sanger sequencing next‐generation...

INTRODUCTION Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, 600204; EDM3, 600969; EDM4, 226900; EDM5, 607078; EDM6, 614135) is an autosomal dominant inherited disease of the skeletal system, characterized by mild short stature and early-onset degenerative joint disease, caused heterogeneous genotypes involving more than six genes (COMP, COL9A1, COL9A2, COL9A3, MATN3, DTDST).[1] However, in approximately 10–20% all samples analyzed, a mutation cannot be identified any mentioned...

Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it very important to avoid the birth of children DMD by prenatal diagnosis. We identified a de novo gene mutation in Chinese family, make

Cellular iron metabolism is essential for maintaining various biological processes in organisms, and this influenced by the function of iron-responsive element-binding protein 2 (IRP2), encoded IREB2 gene. Since 2019, three cases a genetic neurodegenerative syndrome resulting from compound heterozygous mutations have been documented, highlighting crucial role IRP2 regulating homeostasis. This study aims to investigate molecular basis single proband born non-consanguineous healthy parents,...

To assess the association of single nucleotide polymorphisms multidrug resistance gene 1 (MDR1) with refractory epilepsy in children.Peripheral blood samples were collected from 200 children and 100 healthy controls. Genomic DNA was extracted subjected to PCR amplification, agarose gel electrophoresis target site sequencing. Genotypes rs1922242, rs2235048, rs10808072, rs868755 rs1202184 loci MDR1 analyzed.No significant difference found genotypic distribution allelic frequencies rs10808072...

Trisomy 21, or Down syndrome (DS), is the most frequent human autosomal chromosome aneuploidy, which leads to multiple developmental disorders, especially mental retardation in individuals. The presence of an additional 21 (HSA21) could account for pathological manifestations DS. In this study, we analyzed mRNA gene expression profile DS-derived amniocytes compared with normal amniocytes, aiming evaluate relationship between candidate dysregulated HSA21 genes and DS phenotypes....

Brachydactyly, a developmental disorder, refers to shortening of hands/feet due small or missing metacarpals/metatarsals and/or phalanges. Isolated brachydactyly type E (BDE), characterized by shortened metacarpals metatarsals, consists in proportion patients with Homeobox D13 (HOXD13) parathyroid-hormone-like hormone (PTHLH) mutations. BDE is often accompanied other anomalies that are parts many congenital syndromes. In this study, we investigated Chinese family presented combined pectus...

To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD).Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion duplication of the Dystrophin gene. Haplotype analysis performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR DMD gene.A same deletional mutation (exons 51-55) gene detected in two brothers but not their mother. The patients fetus have inherited...

To conduct genetic diagnosis for a family affected with hamophilia A.Potential mutations of the F8 gene were analyzed PCR and Sanger sequencing. Carriers mutation identified through linkage analysis using short tandem repeat (STR) markers. Suspected verified among 100 healthy controls to rule out polymorphism. Prenatal was provided based on above results.Sequencing has two mutations, c.1 A>T c.4 C>T, which have replaced start codon (ATG) leucine (TTG) glutamine (GAA) stop (TAA),...

To carry out genetic testing for a family affected with distal hereditary motor neuronopathy V (dHMN V).Potential mutations of the GARS and BSCL2 genes were analyzed PCR Sanger sequencing. Suspected mutation was verified among unaffected members 100 healthy controls. Prenatal diagnosis provided based on above results.Sequencing analysis has identified heterozygous c.269C>T (p.S90L) in gene, which resulted replacement Serine (TCG) to Leucine (TTG). The same found all other 3 patients from...

Objective: To report a rare case in which an IVF-ET twin pregnancy gave birth to partial trisomy 21 chimera girl. Design: Case report. Setting: University hospital. Patient: A girl with mosaicism after vitro fertilization and embryo transfer. Interventions:In (IVF) transfer (ET). Main Outcome Measure: Karyotype analysis, Copy Number Variation sequencing (CNV-seq), stLFR-WGS, Short Tandem Repeat (STR) analysis. Results: Being assisted IVF EF technology, the couple successfully sisters at 37...

Abstract Drug abuses in adolescents have become a major public health concern, and one of the abusive drugs is morphine. p75NTR an age-related receptor that can mediate synaptic plasticity hippocampus. Previous studies also show its signaling pathway involved some drug-taking behaviors. Using morphine-induced conditioned place preference (CPP) mice, present study aims to analyze changes As expression function be regulated by activities Trk receptors, we aim detect whether activation regulate...

Medical education in the United States has been leading development of medical world. Its curriculum is characterized by various features. In recent years, schools have reforming their curriculum, and some new courses emerged. Some Chinese are following States, studying its advanced educational ideas embodied curriculum. By American exploring characteristics, study aims to broaden horizon China. Key words: The States; Medical curriculum; Characteristics; Capstone...