Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR
Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR
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DOI：
10.1186/gm537
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发表时间：
2014-03-05
期刊：
影响因子：
12.3
通讯作者：
Traherne, James A.
中科院分区：
文献类型：
--
作者：
Roberts, Chrissy h;Jiang, Wei;Traherne, James A.
杀伤细胞免疫球蛋白样受体（KIR）基因复合物具有相当大的生物医学重要性。KIR区域的多态性模式包括单倍型基因内容的变异性和不同的结构排列。使用液滴数字PCR（ddPCR）来鉴定不同的单倍型基序并计数KIR拷贝数变体（CNV）。ddPCR检测到各种KIR单倍型配置的DNA从良好表征的细胞系。在冈比亚家庭中观察到ddPCR估计的KIR2DL5 CNVs的孟德尔分离，并且与已建立的定量PCR方法相比，其他KIR的CNV分型显示出准确性。
The Killer-cell Immunoglobulin-like Receptor (KIR) gene complex has considerable biomedical importance. Patterns of polymorphism in the KIR region include variability in the gene content of haplotypes and diverse structural arrangements. Droplet digital PCR (ddPCR) was used to identify different haplotype motifs and to enumerate KIR copy number variants (CNVs). ddPCR detected a variety of KIR haplotype configurations in DNA from well-characterized cell lines. Mendelian segregation of ddPCR-estimated KIR2DL5 CNVs was observed in Gambian families and CNV typing of other KIRs was shown to be accurate when compared to an established quantitative PCR method.