[脉络膜营养不良症诊断测试的最新进展：蛋白质截短测试（PTT）]
[Update on a diagnostic test for choroideremia: the protein truncation test (PTT)].
作者信息
Beaufrere L, Girardet A, Arnaud B, Claustres M, Tuffery S
机构信息
Laboratoire de Biochimie Génétique, CNRS ERS-155, Institut de Biologie, Montpellier, Francè.
出版信息
J Fr Ophtalmol. 1998 May;21(5):345-50.
PURPOSE
The aim of this study was to define the RT-PCR-PTT parameters for CHM gene analysis and to evaluate its interest as a method for CHM mutation screening.
METHODS
The entire CHM coding region was reversed-transcribed in three overlapping cDNA segments (RT-PCR) which were amplified and further analyzed by PTT after in vitro transcription/translation.
RESULTS
This strategy enabled us to detect a truncated peptide in each of the 6 unrelated patients from southern France who were investigated. The mutation was further characterized by direct sequencing of the RT-PCR product.
CONCLUSION
In CHM gene, all conditions are present to make the RT-PCR-PTT strategy the method of choice for mutation screening. As a result of the simplified protocol described in this study, the families of the patients could benefit from accurate carrier-status assessment.
目的
本研究的目的是确定用于CHM基因分析的RT-PCR-PTT参数，并评估其作为CHM突变筛查方法的价值。
方法
将整个CHM编码区逆转录为三个重叠的cDNA片段（RT-PCR），对其进行扩增，并在体外转录/翻译后通过PTT进一步分析。
结果
该策略使我们能够在来自法国南部的6名无关患者中的每一位中检测到截短的肽段。通过对RT-PCR产物进行直接测序进一步对该突变进行了表征。
结论
在CHM基因中，具备使RT-PCR-PTT策略成为突变筛查首选方法的所有条件。由于本研究中描述的简化方案，患者家属可受益于准确的携带者状态评估。
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