Laboratoire de Biochimie et Génétique Moléculaire de l'ADN, CHU Grenoble, 38043 Grenoble Cedex, France.
Clin Biochem. 2010 Apr;43(6):609-14. doi: 10.1016/j.clinbiochem.2009.12.012. Epub 2010 Jan 4.
To develop and evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in detection of genomic rearrangements of the OCRL1 gene associated with Oculocerebrorenal syndrome of Lowe (OCRL).
Four synthetic MLPA probe sets have been designed to measure exons copy number in OCRL1 gene. After OCRL1 MLPA probe sets validation in 7 OCRL1 deleted patients, we screened 5 female patients to asses their carrier status and 15 patients with suspected OCRL, previously diagnosed as sequence-negative.
MLPA was able to detect all the known deletions. Two of five females were detected as carrier for the family mutation. Neither mosaic deletion nor duplication was found in the 15 patients suspected of having Lowe syndrome.
Our MLPA allows rapid and precise OCRL1 gene quantification. Moreover this study provides no further evidence for the hypothesis that duplications and deletion somatic mosaic deletions account for the fraction of patients who have no detectible mutation after the usual screening procedures.
开发和评估多重连接依赖性探针扩增（MLPA）技术在检测与 Lowe 眼-脑-肾综合征（OCRL）相关的 OCRL1 基因基因组重排中的功效。
设计了四个合成的 MLPA 探针组来测量 OCRL1 基因的外显子拷贝数。在 7 名 OCRL1 缺失患者中验证了 OCRL1 MLPA 探针组后，我们筛选了 5 名女性患者以评估其携带者状态，并对 15 名疑似 OCRL 的患者进行了筛查，这些患者之前被诊断为序列阴性。
MLPA 能够检测到所有已知的缺失。在 5 名女性中，有 2 名被检测为家族突变的携带者。在 15 名疑似患有 Lowe 综合征的患者中，未发现镶嵌性缺失或重复。
我们的 MLPA 允许快速准确地定量 OCRL1 基因。此外，这项研究没有进一步证明假设，即重复和缺失的体细胞镶嵌缺失占经过常规筛选程序后仍未检测到突变的患者的一部分。
