Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2)
Detection of compound heterozygous deletions in the parkin gene of fibroblasts in patients with autosomal recessive hereditary parkinsonism (PARK2)
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DOI：
10.1016/j.neulet.2006.02.035
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发表时间：
2006-05-29
影响因子：
2.5
通讯作者：
Nakashima, Kenji
中科院分区：
文献类型：
--
作者：
Nakaso, Kazuhiro;Adachi, Yoshiki;Nakashima, Kenji
Parkin 基因区域突变是常染色体隐性遗传、青少年或早发性帕金森病 (PARK2) 的常见原因。在本报告中，我们使用 RT-PCR 检测两例中年发病的家族性帕金森症患者的成纤维细胞中 Parkin 基因的复合杂合缺失，该患者伴有下肢为主的静止性震颤和轻度齿轮强直。尽管parkin基因的外显子扩增显示外显子3-4存在缺失突变，但他们的家族史表明缺失突变是一种离散起源的复合杂合异常。免疫印迹表明成纤维细胞中表达丰富的Parkin蛋白，但淋巴细胞中表达很少。使用从患者成纤维细胞中分离的 RNA 进行的 RT-PCR 表明该家族中存在 aparkin 突变，其中包括复合杂合缺失 (del exon3-4/del exon3-5)。这些结果表明，使用患者成纤维细胞进行的 RT-PCR 可能有助于检测 Parkin 基因中的复合杂合异常。 (c) 2006 Elsevier Ireland Ltd. 保留所有权利。
Mutations in the parkin gene area common cause of autosomal recessive, juvenile or early onset parkinsonism (PARK2). In this report, we use RT-PCR to detect compound heterozygous deletions of the parkin gene in fibroblasts from two cases of middle age-onset familial parkinsonism with lower extremities-dominant resting tremor and mild cogwheel rigidity. Although exonic amplification of the parkin gene showed a deletional mutation of exon 3-4, their family histories suggested that the deletional mutations were a compound heterozygous abnormality of discrete origin. Immunoblotting demonstrated that abundant Parkin protein was expressed in fibroblasts, but little expression was detected in lymphocytes. RT-PCR using RNA isolated from the patients' fibroblasts indicated aparkin mutation in this family that consisted of compound heterozygous deletions (del exon3-4/del exon3-5). These results suggest that RT-PCR using the patients' fibroblasts may be helpful for the detection of compound heterozygous abnormalities in the parkin gene. (c) 2006 Elsevier Ireland Ltd. All rights reserved.