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OBJECTIVE@#To determine the type and carrier rate of deafness-related variants in Dongguan, China.@*METHODS@#A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders. For each individual, 100 variations of 18 deafness susceptibility genes were detected.@*RESULTS@#In total 1631 deafness-related variants (including 5 homozygous mutations) were detected, which gave a detection rate of 10.08%. The detection rate of SLC26A4 gene variants was the highest (845 cases, 5.22%), which was followed by GJB2 (673 cases, 4.16%), GJB3 (100 cases, 0.62%), TMC1 (12 cases, 0.07%), and MYO15A (1 case, 0.01%). The detection rate for GJB2 c.235delC variant was the highest (524 cases, 3.24%), which was followed by SLC26A4 IVS7-2A>G variant (270 cases, 1.67%). Thirty three individuals (0.20%) carried two variants at the same time, 7 of them (0.04%) carried compound heterozygous variants of the same gene.@*CONCLUSION@#To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.
Assuntos
Humanos , Recém-Nascido , China , Análise Mutacional de DNA , Surdez , Genética , Genes , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos , Variação Genética , Mutação , RNA RibossômicoRESUMO
Fluorescence probe Fluo-3AM can be luminary in confocal microscope after combining Ca2+,So nomadic Ca2+ in cytoplasm can be measured and tested by this way.Some confocal laser scan images are obtained after calcium in muscle fibers signed with F1uo-3AM. Then mapping function is used to convert the gray level image into colorful image by pseudo-color enhancement theory in digital image.Compared to the original gray level image,the processed pseudo-color image could be more easily distinguished.So the methods had a great value in Ca2+ detection fields.
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This paper gives the techniques and steps of creating remote control instruments system using Windows API functions,and explains its hardware and software structures.The whole system is proved to be stable and reliable by experiment.It can provide a new experimental method for biomedical research,which enable the construction of multifunctional experiment platform.
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In allusion to high labor intensity, low working efficiency and high error rate in hospital laboratory, a detection system of the enzyme-linked analyzer based on Multiscan EX instrument is developed. Being easy to operate, the detection system proves effective in enhancing working efficiency. It deserves popularizing because of its comprehensive applications to the detection.
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With a PII-300 computer, a microcomputer system for SCCA marker detection is developed in this paper, which is based on Windows operating system and Visual Basic 6.0. More than 1,000 cases have proved that the results from the system completely accord with the one from artificial detection. With this system, such disadvantages are conquered as high labor intensity, low working efficiency and high error rate, and a quantitative detection method for SCCA marker comes into existence.
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With a PII-300 computer, an intelligentized microcomputer system for HBV marker detection and reporting is developed in this paper, which is based on Windows operating system and accomplished through Visual Basic6.0. More than 10, 000 cases have proved that the result from the system accords with the one from artificial detection completely. This system solves the problems in hospital laboratory such as high labor intensity, low working efficiency and high error rate, and thus a quantitative detection method for HBV marker comes into existence.
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The nonlinear wavelet method is used to detect ECG signal. The ECG signal disrupted by high-frequency noise is decomposed with a dyadic Daubechies wavelet according to Mallat algorithm. The principle of the nonlinear wavelet detection method is discussed. Along with the Lipschitz criterion, it is applied to denoising the disrupted ECG signal. The ECG signal is effectively recovered while denoised.
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A computer-based system for measuring the changes of cardiac relaxation is introduced.It consists of an IBM-PC/XT microcomputer,a 12-bit A/D converter and a polygraph.The software of this system was written in compile BASIC and 8088 assembly language.It has been used to research the changes of cardiac relaxation of cat burnt.
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A computer-based system for real time analysis of hemodynamic signals in experimen- tal animals was developed by using an IBM-PC/XT microcomputer and a polygraph.The sys- tem software was written in compiler with BASIC and 8088 assembly language.The system per- forms six functions:(1)Acquisition of hemodynamic signals;(2)Extraction of signal feature point;(3)Storage of experimental data on the floppy disk;(4)Calculation of 10 hemodynamic parameters;(5)Printout of the data both in tables and in figures;(6)Statistical analysis of exper- imental data. Pharmacological studies have been carriedout by using the system to evaluate the activities of well-know drug as well as some Chinese medicines on cardie-vascular system.The reliability and practicability of the system were confirmed by the experimental data.