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OBJECTIVE@#To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.@*METHODS@#The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.@*RESULTS@#The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).@*CONCLUSION@#The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
Subject(s)
Female , Humans , China , Mutation , Pedigree , Polydactyly/genetics , Thumb , Exome SequencingABSTRACT
Objective To compare the differences between two statistical methods for evaluating non-sensitivity of pathogenic bacteria to antimicrobial agents,and explore effect of non-consideration of clinical background on evalua-ting extent of bacterial resistance.Methods Data of Staphylococcus aureus and Acinetobacter spp .in a hospital in the first half year of 2008,2010 and 2013 were collected and conducted statistical analysis with two methods (me-thod 1 :based on all clinically isolated bacteria;method 2 :based on infection-related non-repetitive bacteria),two methods for evaluating bacterial non-sensitive rates to antimicrobial agents were compared.Results The non-sensi-tive rates of Acinetobacter spp .to various antimicrobial agents :statistical results by using method 1 were generally higher than those using method 2,absolute difference between two statistical methods was 10.46%-33.77%;the non-sensitive rates of Staphylococcus aureus to various antimicrobial agents :except compound sulfamethoxazole in 2010 and 2013(difference were 6.17% and 10.21 % respectively),penicillin G (difference was 3.86%),erythromy-cin (difference was 2.71 %),and azithromycin in 2013 (difference was 2.43%),statistical results by using method 1 were generally higher than those using method 2,absolute difference between two statistical methods was 0-18.04%.Conclusion There are deviation in the non-sensitive rates of bacterial strains to antimicrobial agents by using two different statistical methods,deviation is larger in Acinetobacter spp ..The resistance level might be incorrectly higher when evaluating the resistance status without considering clinical background of bacteria.
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Objective To detect the serum expression level of Pokemon and explore its clinical value combines with AFP,AFP-L3 or DCP in hepatocellular carcinoma (HCC).Methods In this study,the serum levels of Pokemon,AFP,AFP-L3 and DCP in 30 patients with HCC,34 patients with benign liver diseases and 30 healthy controls were examined by enzyme-linked immunosorbent assay.Then,the clinical significance of Pokemon expression level was analyzed.In the end,the diagnostic evaluation of four serum biomarker alone detection was used to analyze the sensitivity,specificity,the area under the curve and Youden index in the diagnosis of HCC.Results The serum expression level of Pokemon in patients with HCC was (22.63 ± 6.82) ng/ml,which was significantly higher than that in the group with benign liver diseases and healthy controls [(3.54±1.26)ng/ml,t =8.594,P＜0.001;(1.95 ±0.57)ng/ml,t =10.021,P＜0.001].The expression level of Pokemon in HCC patients was correlated to tumor size (t =2.678,P =0.021) and TNM stag (t =2.578,P =0.034).The serum expression levels of AFP,AFP-L3 and DCP in patients with HCC were (774.56 ± 96.52) ng/ml,(26.37 ± 2.54) ng/ml and (93.49 ± 30.45) mAU/ml,which were significantly higher than those in the group with benign liver diseases [(22.21 ± 3.57) ng/ml,(7.05 ± 2.71) ng/ml,(34.68 ± 10.13) mAU/ml] and healthy controls [(14.65 ± 4.45) ng/ml,(3.84 ± 1.09) ng/ml,(25.87 ± 9.01)mAU/ml,F=58.46,P=0.000;F=12.47,P=0.000;F=23.41,P=0.000].The sensitivity and specificity of Pokemon,AFP,AFP-L3,DCP in the diagnosis of HCC were 84.6％ and 87.5％,52.5％ and 78.9％,95.0％ and 80.0％,77.1％ and 87.5％,respectively.Conclusion The enhanced Pokemon serum level,with its sensitivity and specificity higher than AFP,points out Pokemon may be a potentially useful biomarker to diagnose HCC.
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Objective To explore the clinical significance of expression of the CD20 in 96 adults B-lineage acute lyrnphoblastic leukemia (B-ALL). Methods The CD20 expression of 96 acute lymphoblastic leukemia patients were determined by flow cytometry. The characteristics ,examination results and outcome were analyzed retrospectively. Results Out of the 96 patients, there were 29 (30.20 %) patients with CD20positive and 67 (69.79 %) patients with CD20 negative. The distribution of age, infiltration of liver, spleen, and lymphnodes, the expression of myeloid lineage marker, the incidence of Ph chromosome and bcr-abl fusion gene and the complete remission rate within 4 weeks between CD20 positive and negative groups showed no significant differences (P ＞ 0.05). The relapse rate and 3 year over survival rate of adults B-ALL in CD20 positive and negative groups were 54.55 % and 14.80 %, 29.63 % and 37.30 % respectively with a significant differences (x2 = 0.42, 5.31, P＜ 0.05). Conclusion The expression of CD20 in adult B-ALL appears to be not associated with clinical features and CD20 expression in adult B-ALL cells appears to be associated with poor prognosis.
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Objective To determine whether pattern of WT1 gene expression is a useful marker for establishing prognosis and tracking disease progression in patients with myelodysplastic syndromes (MDS). Methods RNA were extracted from bone marrow smears of 45 patients with MDS, the WT1 expression were tested by FQ-RT-PCR. Results The degree of WT1 expression was increased during disease progression of MDS. The WT1 expression level was increased more a logarithm grade when a RA patient developed into RAEB, the fluctuation of WT1 expression level was decreased a logarithm grade during RA. Conclusion WT1 gene is a useful marker for assessment in MDS patients. It pointed out may diagnosis RA if the WT1 expression level higher two logarithm grade than the mean of normal control for patients which didn't diagnose by morphology. It may suggest disease progress of MDS if the WT1 expression level increased more a logarithm grade recently. Further confirmation was needed because the case was limited.
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Objective To study the frequency of mixed-lineage leukemia(MEL)gene rearrangement and frequent types of fusion genes and the clinical characteristics in acute leukemia(AL)with MLL gene rearrangement.Methods MLL gene rearrangement was detected by multiplex nested RT-PCR in 109 cases of AL.Immunophenotypes were screened by flow cytometry and the chnical features of MLL gene rearranged were analyzed.Results MLL gene rearrangement were identified in 6.4%(7/109)of the patients,4 cases of AML,1 case of M2,1 case of M4,2 cases of M5,3 cases of.B-ALL.MLL-AF4,MLL-AF6,MLL-AF9,MLL-AF10.MLL-ENL were deleted by multiplex nested RT-PCR.Patients with MLL gene rearrangement presented higher initial white blood cell count(WBC)(P=0.019).Conclusion Multiplex nested RT-PCR is a fast and effective method to detect gene rearrangement of MLL in AL Patients with MLL gene rearrangement presented higher WBC and poor prognosis.