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Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 369-373, 2009.
Article in Chinese | WPRIM | ID: wpr-349073
ABSTRACT
<p><b>OBJECTIVE</b>To establish a method of multiplex ligation-dependent probe amplification (MLPA) for clinical screening of Williams syndrome (WS) and for routine use in WS diagnosis.</p><p><b>METHODS</b>Probes for MLPA were designed according to the frequent deletion regions, and used to screen the two patients suspected with Williams syndrome, and the density of the bands were analyzed with software. Linkage analysis using polymorphic markers was performed to confirm the positive result of MLPA.</p><p><b>RESULTS</b>The MLPA data indicated that the two children had possible microdeletions in the WS critical region. The deletions were confirmed and both were maternal origin by polymorphism analysis.</p><p><b>CONCLUSION</b>MLPA is a quick and convenient method for detecting deletion or duplication mutations. It can provide reliable and helpful information for clinical diagnose of Williams syndrome.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Oligonucleotide Probes / Sequence Deletion / Williams Syndrome / Ligase Chain Reaction / Diagnosis / Genetics / Methods Type of study: Diagnostic study Limits: Child / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2009 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Oligonucleotide Probes / Sequence Deletion / Williams Syndrome / Ligase Chain Reaction / Diagnosis / Genetics / Methods Type of study: Diagnostic study Limits: Child / Humans / Male Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2009 Type: Article