ABSTRACT
OBJECTIVE@#To carry out genetic diagnosis for a fetus.@*METHODS@#Chromosome G-banding and chromosomal microarray analysis (CMA) were carried out for a fetus with abnormal morphology of lateral cerebral fissure.@*RESULTS@#The karyotype of the fetus was normal, but CMA showed that it has carried a 1.4 Mb deletion at 17p13.3 region, which suggested a diagnosis of Miller-Dieker syndrome (MDS).@*CONCLUSION@#Familiarity with clinical features and proper selection of genetic testing method are crucial for the diagnosis of MDS. Attention should be paid to microdeletions and microduplications which can be missed by conventional chromosomal karyotyping.
Subject(s)
Female , Humans , Pregnancy , Chromosome Banding , Chromosome Deletion , Chromosomes, Human, Pair 17 , Classical Lissencephalies and Subcortical Band Heterotopias/genetics , Fetus , Karyotyping , Prenatal DiagnosisABSTRACT
Objective To explore the association between HLA-A*31, B*40, B*58 and DRB1*16 allele polymorphisms and onset of hemorrhagic fever with renal syndrome (HFRS) in Zunyi Han population. Methods Using group study, HLA-A*31, B*40, B*58 and DRB1*16 genotyping was conducted in 100 HFRS cases and 100 controls among Han population in Zunyi area with polymerase chain reactionsequence specific primer(PCR-SSP), gene frequency (GF) and relative risk (RR) were calculated and compared. Results The results showed that the frequencies of A*3101, B*5801 and DRB1*1602 were increased in patients as compared to the healthy controls ( RR = 13. 825, x2 = 4. 296, P = 0. 038; RR =2.614,x2 =6. 133,P=0.013;RR =8.523,x2 =8. 865,P=0. 003). The frequency of B*4001 in patients with HFRS were significantly lower than that in the healthy controls( RR =0.414,x2 =6.640,P =0. 010).Conclusion These results suggest that HLA-A*3101, B*5801 and DRB1*1602 haplotypes were strongly associated with susceptibility to HFRS disease in Zunyi Han population and allele HLA-B*4001 might be associated with protection against hantaviruses infection.
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Objective To investigate the expression of monocyte chemoattractant protein-1(MCP-1)and CCR2 in peripheral blood and pleural fluid of tuberculous pleurisy patients.Methods Flow cytometry was used to detect the expression of CCR2 in the peripheral blood mononuclear cell and pleural fluid cell of tuberculous pleurisy patients;ELISA was used to detect the content of MCP-1 in serum and pleural fluid.Results MCP-1 in surem and pleural fluid and CCR2 in the peripheral blood mononuclear cell and pleural fluid cell of tuberculous pleurisy patients was significantly higher than that of the healthy normal controls[MCP-1:(340.8±220.8)and(9.0±3.8)ng/L,P＜0.01;CCR2(18.2±10.1)%and(6.9±3.5)%,P＜0.05];Both MCP-1 and CCR2 were detected in pleural fluid and both of them were positivley correlated(r=0.227,P＜0.05).Conclusion The expression of MCP-1 and CCR2 in peripheral blood of tuberculous pleurisy patient are significantly elevated which are significance molecule participating in the pathogenesis of tuberculous pleurisy.
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Objective:To establish the technique for real-time fluorescence quantitative reverse transcription polymerase chain reaction(FQ-PCR)by DNA melting curve analysis for detecting the CDR3 shewing of TCR alpha gene repertoire in human peripheral blood.Methods:Total RNA of peripheral blood mononuclear cell(PBMC)from 4 healthy donors and 2 patients with lymphomatous leukemia were transcripted reversely into cDNA.The cDNA of 32 TRAV gene family CDR3 was amplified by FQ-PCR.Analysis of the monoclonal/oligoclonal/polyclonal CDR3 spectratyping with DNA melting curve.Results:The FQ-PCR products of 32 TRAV family CDR3 were showedas a blur land at the predicted of products size in healthy donors and parts of TRAV family CDR3 products disappeared in patients on 1.5% agarose gel by Gold-View staining.The 32 TRAV family CDR3 were showed with different frequencies by relative fluorescence quantitative in healthy donors and the patients.The CDR3 spetratyping for 32 TRAV families was showed as polyclonal peak(Gaussian distribution)in healthy donors but showed as different monoclonal/oligoclonal/polyclonal peak in the patients with lymphomatous leukemia with DNA melting curve analysis(we called "melting curve spectratyping of CDR3")Conclusion:The study suggests that the technique of "FQ-PCR with DNA melting curve analysis be convenience and celerity for detecting the CDR3 skewing of TCR alpha gene repertoire in human peripheral blood.