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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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