ABSTRACT
OBJECTIVE@#To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.@*METHODS@#Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified in other family members and 100 healthy controls. Polyphen-2 and SIFT software were used to predict the effect of the mutation, and Swiss-model software was used to simulate the protein structure.@*RESULTS@#Three patients were found to carry a c.893G>A mutation in exon 8 of the LBR gene, which resulted in substitution of the 298th amino acid residue glycine by glutamic acid (p.Gly298Glu). The same mutation was not found in healthy family members and 100 healthy controls. The mutation was predicted to be damaging. Bioinformatic simulation showed the mutation has altered the 3D structure of the LBR protein.@*CONCLUSION@#The c.893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the PHA in this pedigree and has enriched the spectrum of LBR gene mutations.
Subject(s)
Humans , Case-Control Studies , DNA Mutational Analysis , Exons , Mutation , Pedigree , Pelger-Huet Anomaly , Genetics , Polymerase Chain Reaction , Receptors, Cytoplasmic and Nuclear , GeneticsABSTRACT
OBJECTIVE@#To identify the mutation type of non-muscle myosin heavy chain 9 (MYH9) gene and investigate the clinical features of a pedigree affected with MYH9 gene-related disease.@*METHODS@#Peripheral blood samples of the proband and his family members were collected. Routine blood tests were performed, which included platelet counting and Wright's staining to observe the granulocyte inclusions and giant platelets. PCR was used to amplify exons 2, 17, 27, 31, 39 and 41 of the MYH9 gene, and the mutation site was determined by Sanger sequencing.@*RESULTS@#All patients from the pedigree presented a typical triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. In addition, two patients had nephritis and cataract. All affected members carried a heterozygous missense mutation of c.5521G>A (p.glu1841Lys) in exon 39 of the MYH9 gene. The same mutation was not found among healthy members of the pedigree and the controls.@*CONCLUSION@#The c.5521G>A (p.Glu1841Lys) mutation in the MYH9 gene probably underlies the MYH9-related disease in this pedigree.
Subject(s)
Female , Humans , Male , Genetic Testing , Molecular Motor Proteins , Genetics , Mutation , Myosin Heavy Chains , Genetics , Pedigree , ThrombocytopeniaABSTRACT
Objective@#To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.@*Methods@#Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified in other family members and 100 healthy controls. Polyphen-2 and SIFT software were used to predict the effect of the mutation, and Swiss-model software was used to simulate the protein structure.@*Results@#Three patients were found to carry a c. 893G>A mutation in exon 8 of the LBR gene, which resulted in substitution of the 298th amino acid residue glycine by glutamic acid (p.Gly298Glu). The same mutation was not found in healthy family members and 100 healthy controls. The mutation was predicted to be damaging. Bioinformatic simulation showed the mutation has altered the 3D structure of the LBR protein.@*Conclusion@#The c. 893G>A (p.Gly298Glu) mutation in the LBR gene probably underlies the PHA in this pedigree and has enriched the spectrum of LBR gene mutations.
ABSTRACT
BACKGROUND:Bone marrow mesenchymal stem cels can secrete a variety of factors in the local lesion, and these factors can promote cel proliferation and inhibit cel apoptosis. OBJECTIVE: To observe the curative effect of bone marrow mesenchymal stem cel transplantation on the aging heart of rats and to explore the possible mechanism of action. METHODS:Thirty Sprague-Dawley rats were randomized into three groups: normal blank group, model group and treatment group. Aging models were made in the latter two groups by injection of D-galactose. Rats in the treatment group were given alogeneic bone marrow mesenchymal stem cel injection, once a week, totaly four times. At 1 week after final injection, the heart tissues were sliced into sections to observe the pathological changes using hematoxylin-eosin staining. Western blot assay was used to detect the expression of basic fibroblast growth factor in the heart tissues. Real-time PCR was used to measure the expression of p53 mRNA in the heart tissues. RESULTS AND CONCLUSION:Bone marrow mesenchymal stem cel transplantation could improve the pathological morphology of the aging heart. Compared with the model group, the expression of basic fibroblast growth factor in the heart tissues was significantly higher in the treatment group (P < 0.05), but the mRNA expression of p53 was lower (P < 0.05). It is speculated that bone marrow mesenchymal stem cels can interact with heart cels to secrete basic fibroblast growth factor and reduce p53 mRNA expression, thereby playing a curative effect on the aging heart.
ABSTRACT
Objective To establish an external quality assessment ( EQA) system of genitourinary tract secretions routine testing in Guizhou Province and improve the overall testing level.Methods From 2009 to 2011, more than 50 clinical laboratories in different grade hospitals from Guizhou Province were enrolled as participating units every year.EQA was carried out twice a year.Each time, five slides of high quality Wright′s or Gram stain smear of the genitourinary tract secretions or photographs obtained from these smears were selected to send to the participating laboratories for testing, and the feedback results from each laboratory were analyzed.The qualification was judged by the coincidence rate equal to or more than 80%. The average coincidence rates of each time and each year were statistically analyzed by Chi-squared test. Results From 2009 to 2011, the number of EQA participating units increased from 55 to 96, with an average return rate of >80%.Coincidence rates <80%of the 6 EQA results in the 3 years were as follow:four times for coccobacteria (73.7%,77.8%,61.1%,77.1%), twice for bacillus (75.6%,79.3%) and coccobacillus (64.3%,52.1%), once for infusorian (79.7%), epithelial cells (76.1%), neutropenia (75.7%) and cleanliness (71.3%).There were six batches of 30 quality assessment controls (accounting for 20.0%) in the six EQAs had the coincidence rate of <80%.Eleven items of 30 quality assessment controls with 1 to 15 batches were unqualified ( average coincidence rate of<80%) respectively.The item with the highest total average coincidence rate was suspected gonococcus (94.2%), and two items with the lowest total average coincidence rates were coccus and coccobacillus ( 77.0%, 75.2%, respectively ) . Conclusions This EQA program carried out within a certain range of clinical laboratories achieved good results:participating units increased significantly;the total score of all the items showed an obviously upward trend;the quality awareness of clinical lab technicians has enhanced to a certain extent.In this study, EQA system of genitourinary tract secretion routine testing were preliminarily established in Guizhou province, which provided a reference model of internal quality control ( IQC ) and EQA for clinical laboratories and higher authorities, and will be bound to have a positive impact on improvement of the overall level of genitourinary tract secretion routine testing.