MLPA for confirmation of array CGH results and determination of inheritance.
MLPA for confirmation of array CGH results and determination of inheritance.
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DOI：
10.1186/1755-8166-3-19
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发表时间：
2010-10-13
影响因子：
1.3
通讯作者：
Ogilvie CM
中科院分区：
文献类型：
--
作者：
Hills A;Ahn JW;Donaghue C;Thomas H;Mann K;Ogilvie CM
阵列CGH最近被引入我们的实验室，以代替疑似基因组不平衡患者的核型分析。结果需要确认，以检查样本的身份，并分析亲本样本，以确定遗传，从而评估异常的临床意义。在这里，我们描述了一种基于mlpa的策略，用于异常aCGH结果的随访。在我们基于MLPA的aCGH随访服务的前17个月，我们在164个家庭中开发了317种不同的定制MLPA探针，用于新型aCGH检测异常的遗传研究。此外，使用商用MLPA试剂盒对110个样本进行检测，以确认在常见综合征或亚端粒区检测到acgh异常。总的来说，MLPA一共测试了1215个样本。共有72例新发异常被证实。确认aCGH检测到的异常和这些异常的遗传对于准确诊断和解释aCGH结果至关重要。我们的实验室发现，利用定制的MLPA探针和商用MLPA套件开发一种新的服务，用于阵列CGH结果的后续研究，既高效又灵活。
Array CGH has recently been introduced into our laboratory in place of karyotype analysis for patients with suspected genomic imbalance. Results require confirmation to check sample identity, and analysis of parental samples to determine inheritance and thus assess the clinical significance of the abnormality. Here we describe an MLPA-based strategy for the follow-up of abnormal aCGH results. In the first 17 months of our MLPA-based aCGH follow-up service, 317 different custom MLPA probes for novel aCGH-detected abnormalities were developed for inheritance studies in 164 families. In addition, 110 samples were tested for confirmation of aCGH-detected abnormalities in common syndromic or subtelomeric regions using commercial MLPA kits. Overall, a total of 1215 samples have been tested by MLPA. A total of 72 de novo abnormalities were confirmed. Confirmation of aCGH-detected abnormalities and inheritance of these abnormalities are essential for accurate diagnosis and interpretation of aCGH results. The development of a new service utilising custom made MLPA probes and commercial MLPA kits for follow-up studies of array CGH results has been found to be efficient and flexible in our laboratory.
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影响因子：
1.9
作者：
Reddy, Sujana;Dolzhanskaya, Natalia;Velinov, Milen
通讯作者：
Velinov, Milen
影响因子：
30.8
作者：
McCarthy, Shane E.;Makarov, Vladimir;Kirov, George;Addington, Anjene M.;McClellan, Jon;Yoon, Seungtai;Perkins, Diana O.;Dickel, Diane E.;Kusenda, Mary;Krastoshevsky, Olga;Krause, Verena;Kumar, Ravinesh A.;Grozeva, Detelina;Malhotra, Dheeraj;Walsh, Tom;Zackai, Elaine H.;Kaplan, Paige;Ganesh, Jaya;Krantz, Ian D.;Spinner, Nancy B.;Roccanova, Patricia;Bhandari, Abhishek;Pavon, Kevin;Lakshmi, B.;Leotta, Anthony;Kendall, Jude;Lee, Yoon-ha;Vacic, Vladimir;Gary, Sydney;Iakoucheva, Lilia M.;Crow, Timothy J.;Christian, Susan L.;Lieberman, Jeffrey A.;Stroup, T. Scott;Lehtimaki, Terho;Puura, Kaija;Haldeman-Englert, Chad;Pearl, Justin;Goodell, Meredith;Willour, Virginia L.;DeRosse, Pamela;Steele, Jo;Kassem, Layla;Wolff, Jessica;Chitkara, Nisha;McMahon, Francis J.;Malhotra, Anil K.;Potash, James B.;Schulze, Thomas G.;Noethen, Markus M.;Cichon, Sven;Rietschel, Marcella;Leibenluft, Ellen;Kustanovich, Vlad;Lajonchere, Clara M.;Sutcliffe, James S.;Skuse, David;Gill, Michael;Gallagher, Louise;Mendell, Nancy R.;Craddock, Nick;Owen, Michael J.;O'Donovan, Michael C.;Shaikh, Tamim H.;Susser, Ezra;DeLisi, Lynn E.;Sullivan, Patrick F.;Deutsch, Curtis K.;Rapoport, Judith;Levy, Deborah L.;King, Mary-Claire;Sebat, Jonathan
通讯作者：
Sebat, Jonathan
影响因子：
158.5
作者：
Weiss, Lauren A.;Shen, Yiping;Daly, Mark J.
通讯作者：
Daly, Mark J.
影响因子：
9.8
作者：
Miller, David T.;Adam, Margaret P.;Ledbetter, David H.
通讯作者：
Ledbetter, David H.
影响因子：
168.9
作者：
Mann, K;Fox, SP;Ogilvie, CM
通讯作者：
Ogilvie, CM