微滴式数字PCR与遗传疾病检测及器官移植.pdf

微滴式数字PCR与遗传疾病检测及器官移植.pdf

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微滴式数字PCR 与遗传疾病检测及 器官移植 Zhao Yun LSG Marketing 遗传疾病的检测 Life science research ddPCR与拷贝数变异_Mapping Chromosomal Deletions 3 Flora Tassone, UC Davis The Problem: 22q11 DS is not reliably detected with qPCR. Early intervention can have profound benefits for diseased individuals. Solution: Using gDNA isolated from whole blood 8 assays were used in ddPCR to determine the size of 22q11 deletions. ddPCR clearly identified 1.5 MB, 3 MB deletions, and atypical deletions in affected individuals Life science research Sizes and types of chromosome 22 deletions 4 The diagram summarizes the deletions identified in the 80 participants of the study. – Diamond regions indicate a hemizygous deletion of one gene copy; solid dark regions indicate the presence of two copies of chromosome 22; solid light regions indicate uncertain areas of deletion. Locations of assays in base pairs are noted (as reported in the UCSC Genome Browser, 2013). Numbers of individuals are noted on the left. Life science research Mapping Chromosomal Deletions using ddPCR 8 assays across the region were used to measure CNV ddPCR TD DS 3MB DS 1.5MB TD= typically developing (no deletion)

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