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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.
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Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.

机译：在额颞叶变性的芬兰患者中，progranulin突变的患病率较低。

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BACKGROUND AND PURPOSE: Mutations in the progranulin (PGRN) gene have recently been associated with frontotemporal lobar degeneration (FTLD). The frequency of these mutations varies between populations. The aim of this study was to determine mutations and genetic variations of the PGRN gene in Finnish patients with FTLD and FTLD with associated motor neuron disease (FTLD-MND). SUBJECTS AND METHODS: All exons of the PGRN gene were sequenced from 69 Finnish patients with FTLD. The FTLD-MND phenotype was present in 13 of the 69 patients. RESULTS: No pathogenic PGRN mutations were identified in the cohort. Eleven sequence variations were detected, of which IVS8 + 15C>T, IVS4-51_-52insAGTC and IVS11 + 25G>A have not been reported previously. At least one single-nucleotide polymorphism (SNP) of PGRN was detected in 83% of patients. CONCLUSIONS: We conclude that mutations in PGRN are rare among Finnish patients with FTLD and FTLD-MND. However, SNPs were frequent suggesting high genetic variability of the PGRN gene.
机译：背景与目的：前颗粒蛋白（PGRN）基因的突变最近与额颞叶变性（FTLD）相关。这些突变的频率因人群而异。这项研究的目的是确定芬兰FTLD和FTLD伴有运动神经元疾病（FTLD-MND）的患者中PGRN基因的突变和遗传变异。研究对象和方法：从69名芬兰FTLD患者中测序了PGRN基因的所有外显子。 FTLD-MND表型出现在69位患者中的13位。结果：队列中未发现致病性PGRN突变。检测到11个序列变异，其中IVS8 + 15C> T，IVS4-51_-52insAGTC和IVS11 + 25G> A以前没有报道。在83％的患者中检测到至少一种PGRN的单核苷酸多态性（SNP）。结论：我们得出结论，芬兰的FTLD和FTLD-MND患者中PGRN突变很少。但是，SNP频繁提示PGRN基因的高遗传变异性。

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