Detection Of Aneuploidy Using Suspension Array Technology After Multiplex Ligation-dependent Probe Amplification

This dissertation builds upon suspension array which is a novel technology platform for molecular diagnosis and includes the core technology of multiplex ligation-dependent probe amplification(MLPA) that has good performance on detecting dosage differences,in order to explore its application possibility of quantitative analysis.While the combined technology is named as MLPA-suspension array technology,aneuploidy becomes the target that expects to be detected. Aneuploidy is a kind of chromosome disease and results in the condition of having more than or less than the normal diploid number of chromosomes.In the light of its high incidence,the concept that detects common aneuploidies in ongoing pregnancies using MLPA-suspension array technology is meaningful not only because of technology innovation,but also because of practical purpose.In chapterâ… ,we summarized the basic information of aneuploidy and its detection methods which have been developed and used for several years or decades. Then,we introduced the principle,advantages and applications of suspension array.In chapterâ…¡,we described how to detect aneuploidies by MLPA-suspension array technology in detail,in terms of experimental design,fundamental principle, bench work and data analysis.Next,we optimized the detection system in many aspects so as to obtain better results which were judged from the difference of chromosome copy number between patients and normal samples.Then,we established a standardized detection system.In chapterâ…¢,we evaluated the accuracy and reliability of MLPA-suspension array technology through detecting clinical samples.The results demonstrate that it is able to distinguish patient samples correctly and stably from normal samples.In addition,it is clearly applicable in prenatal diagnosis.In a word,MLPA-suspension array technology shows great potential in detection of copy number variation.