ddPCR 遗传病检测及器官移植-
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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
Flora Tassone, UC Davis
ddPCR TD
DS
3MB
DS
1.5MB
Reference: RPP30-FAM/HEX
Blood
Droplet PCR
Droplet Analysis
E C P R
C P C R P R
CP R
HEX E
C
P
R
C R
C P
CP R
P R
ddPCR™ SMN1Copy Number Determination Kit
ddPCR™ SMN2Copy Number Determination Kit
ddPCR™ SMN Copy Number
•ddPCR技术和常规的多重连接依赖性探针扩增技术同时对56 个SMA 家系共138 例样本(其中产前诊断样本17 例)进行SMN1 基因第7 外显子拷贝数的检测
*Cystic fibrosis transmembrane conductance regulator
Distance in Kilobases
LA, Rouillac-Le Sciellour C, Le Tessier
A, Porcher R, et al. (2016)
Could Digital PCR Be an Alternative as a Non-
Invasive Prenatal Test for Trisomy 21: A Proof of
ONE 11(5): e0155009.
doi:10.1371/journal.pone.0155009
测试平台：Bio-Rad QX100 Droplet Digital PCR System。
方法学：双荧光通道的8重PCR分析。
号染色体作为内参染色体的可靠性
chromosome) Validation of the multiplex PCR–serial dilutions for each set of probes
p << 0.0001)
Threshold =1.057 (98% of
specificity and 94% of
sensitivity).
Thalassemia . 2011 117: 3684-3691
Cancer
Noninvasive Prenatal Testing Pre-diabetes Screening
…….
Transplantation Medicine
IF:11.86
Time course of plasma GcfDNA percentage during the first year after liver transplantation in patients without rejection, active infections, or interventions
percentages during the first year after transplantation in stable
Thank You!。