ABSTRACT
Objective To investigate the characteristics of phenylalanine hydroxylase (PAH) gene mutations in Han ethnic children with phenylketonuria of Xinjiang region.Methods The mutations in the promoter,exons 1-13 and flanking introns of PAH genes from 71 Han ethnic PKU children and their parents of Xinjiang region were detected by PCR,DNA sequencing and high-throughput targeted sequencing,and the obtained results were compared with those from other four provinces in northwest of China,Japan and Europe.Re suits A total of 37 kinds of mutations,including missense mutation,splice site mutation,nonsense mutation,deletion mutation and frameshift mutation,were detected in 90.1％ (128/142) of PAH alleles from 71 Han ethnic PKU children of Xinjiang region.Most mutations existed in exons 7,6,3,12,2 and 11 and intron 4 of PAH gene.The most common missense mutations were R243Q (21.8％) and R53H (7.7％).The most common splicing sites were EX6-96A ＞ G(6.3％),IVS4-1G ＞ A(4.9％) and V399V (4.2％).Moreover,The most common nonsense mutations were R111X(4.9％) and Y356X(4.9％).The detection rate of R53H mutation (7.7％) in Han ethnic PKU children of Xinjiang region was significantly higher than that in other 4 provinces of northwest of China,and a novel PAH gene nutation P225S(c.673C ＞ T) was found.Conclusion The mutation spectrum of PAH gene in Han ethnic PKU children of Xinjiang region is similar to that in other 4 provinces of northwest of China,but significantly different from that of Japanese and European population,which displays a distinct and conservative characteristic.
ABSTRACT
In this paper is used the rough set theory to deal with the information contained in electrocardiographic waveforms and to find out the correlation between coronary heart disease (CHD) and the selected indices in electrocardiographic lead I. The principles of attribute reduction are applied, the redundancy of a decision-making table is reduced, and the important characters and diagnostic rules are extracted. The real case analysis shows that clear and concise diagnostic rules can be established by using rough set theory, which can be helpful to the clinical diagnosis of CHD.
Subject(s)
Humans , Algorithms , Coronary Disease , Diagnosis , Decision Making, Computer-Assisted , Electrocardiography , Methods , Predictive Value of Tests , Signal Processing, Computer-AssistedABSTRACT
Objective To study the inhibition of vibramycin on the expression of matrix metalloproteinase 2 (MMP 2) and the invasiveness of androgen independent prostatic carcinoma cell line PC 3 in vitro. Methods Immunohistochemistry stain and transwell chamber were used to investigate the expression of MMP 2 in different concentration of vibramycin treated PC 3 cells and the invasive ability of different concentration of vibramycin treated PC 3 cell. Results The positive rate of MMP 2 in PC 3 cells was decreased at a concentration of 5 mg/L of vibramycin and decreased dramatically at the concentration of 10 mg/L.The cells moved through the membrane was (82.0?4.6)/field in the control group,while decreased to (26.1?3.6)?(7.2?2.2) and (3.3?0.7)/field in 5?10 and 20 mg/L vibramycin treated PC 3 cell respectively. Conclusions Vibramycin can inhibit the invasiveness and metastasis of PC 3 cells, the mechanism of which is related to the inhibition of MMP 2 in PC 3 cell.