Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.
Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.
复制标题
实时定量 PCR 作为标准细胞遗传学诊断工具的评估，用于确认微阵列 (aCGH) 结果和确定遗传。
DOI：
10.1089/gtmb.2013.0284
复制
发表时间：
2013
影响因子：
1.4
通讯作者：
N. Lench
中科院分区：
文献类型：
--
作者：
R. Wang;Jenny Carter;N. Lench
目的
评估实时定量 PCR (qPCR) 作为跟踪异常微阵列 (aCGH) 结果的诊断工具的用途。
方法
对 207 个已知 aCGH 结果的样本进行 qPCR，以检测染色体异常并确定 qPCR 的能力。处理了 84 个样本，并将结果与原始 aCGH 结果以及一种或多种替代后续方法进行比较：aCGH、荧光原位杂交 (FISH) 或核型分析。使用由 107 个样本组成的单独队列来确定 qPCR 的临界阈值。另外 16 个样品在再现性和敏感性研究中进行了评估。
结果
所有 qPCR 结果均与原始 aCGH 结果一致，并且与 FISH 和核型分析相比，qPCR 被发现是一种更优越的随访方法。这项研究还确定了关键阈值。
结论
在本研究中，qPCR 分析识别了所有拷贝数变化。 qPCR 是一种准确、快速、可靠且廉价的技术，用于确认拷贝数变化，并确定此类异常的遗传情况以帮助解释结果。我们还提出了 qPCR 作为实用工具所需的关键阈值。该技术现已成功实施，作为我们实验室临床诊断服务的一部分。
AIM
To evaluate the use of real-time quantitative PCR (qPCR) as a diagnostic tool for follow up of abnormal microarray (aCGH) results.
METHOD
qPCR was performed on 207 samples with known aCGH results to detect chromosomal abnormality and determine the capability of qPCR. Eighty-four samples were processed and the results compared with the original aCGH result and with one or more of the alternative follow-up methods: aCGH, fluorescence in situ hybridization (FISH), or karyotyping. A separate cohort of 107 samples was used to determine critical threshold values for qPCR. A further 16 samples were assessed in reproducibility and sensitivity studies.
RESULTS
All qPCR findings were consistent with the original aCGH results, and qPCR was found to be a superior follow-up method compared to FISH and karyotyping. Critical threshold values were also determined from this study.
CONCLUSION
In this study, qPCR analysis identified all copy number changes. qPCR is an accurate, rapid, reliable, and inexpensive technique for confirming copy number changes, and for determining the inheritance of such abnormalities to aid interpretation of results. We also present the critical threshold values required for qPCR as a practical tool. This technique has now been successfully implemented as part of the clinical diagnostic service within our laboratory.
影响因子：
9.8
作者：
Miller, David T.;Adam, Margaret P.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
DOI：
10.1111/j.1530-0277.2012.01758.x
发表时间：
2012-09
期刊：
Alcoholism, clinical and experimental research
影响因子：
--
作者：
Lin P;Hartz SM;Wang JC;Agrawal A;Zhang TX;McKenna N;Bucholz K;Brooks AI;Tischfield JA;Edenberg HJ;Hesselbrock VM;Kramer JR;Kuperman S;Schuckit MA;Goate AM;Bierut LJ;Rice JP;COGA Collaborators;COGEND Collaborators, GENEVA
通讯作者：
COGEND Collaborators, GENEVA