AccuCopy quantification combined with pre-amplification of long-distance PCR for fast analysis of intron 22 inversion in haemophilia A
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- 作者：Qianlan Dinga ; Xi Wua ; Yeling Lua ; Changming Chenb ; Rui Shenc ; Xi Zhangc ; Zhengwen Jiangc ; zhengwenj@geneskies.com" class="auth_mail" title="E-mail the corresponding author ; Xuefeng Wanga ; wangxuefeng6336@hotmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：HA ; haemophilia A ; F8 ; factor VIII gene ; Inv22 ; intron 22 inversion ; LD-PCR ; long-distance-PCR ; IS-PCR ; inverse shifting-PCR ; Del22 ; int22h-mediated deletion ; Dup22 ; int22h-mediated duplication ; PLP ; pre-amplification of LD-PCR ; AQ-PLP ; AccuCopy quantification combined with pre-amplification of long-distance PCR ; CNV ; copy number variation ; LOD ; limit of detection
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：1 July 2016
- 年：2016
- 卷：458
- 期：Complete
- 页码：78-83
- 全文大小：781 K
文摘
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AccuCopy quantification combined with pre-amplification of LD-PCR (AQ-PLP) method for intron 22 inversion (Inv22) analysis.
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Inv22 Genotyping results of 164 samples were consistent with those obtained by classic LD-PCR detection.
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Limit of detection (LOD) of the carrier mosaicism test was at least 2% of heterozygous cells with Inv22.
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AQ-PLP method was confirmed to be rapid and reliable for genotyping Inv22 and sensitive to carrier mosaicism detection.
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