假性杂合 parkin 重排突变。
Pseudo-heterozygous rearrangement mutation of parkin.
机构信息
Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
出版信息
Mov Disord. 2012 Apr;27(4):552-5. doi: 10.1002/mds.24906. Epub 2012 Feb 5.
BACKGROUND
Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin.
METHODS
A patient with early-onset parkinsonism and the parents were investigated by quantitative PCR, haplotype analysis, reverse-transcription PCR, and direct sequencing.
RESULTS
A single heterozygous duplication (duplication of exons 6-7) was identified in the patient by quantitative PCR. Detailed analysis of the family revealed the patient carried compound heterozygous of combined deletion (deletion of exons 3-5) and duplication (duplication of exons 3-7).
CONCLUSIONS
For correct determination of rearrangement mutation, mutation analysis of the patient as well as other family members and/or break-point analysis of genomic DNA and at the transcript level should be conducted.
背景
Parkin 基因突变是常染色体隐性遗传帕金森病最常见的原因。定量 PCR 用于检测 Parkin 重排。然而，该方法存在一个固有问题——同一等位基因外显子中的缺失和重复可能被确定为正常。为了说明这种误识别，我们报告了一个 Parkin 复合杂合重排的家系。
方法
通过定量 PCR、单体型分析、逆转录 PCR 和直接测序，对一名早发性帕金森病患者及其父母进行了研究。
结果
定量 PCR 鉴定患者存在单杂合重复（外显子 6-7 重复）。对家系的详细分析显示，患者携带复合杂合的缺失（外显子 3-5 缺失）和重复（外显子 3-7 重复）。
结论
为了正确确定重排突变，应进行患者以及其他家庭成员的突变分析，和/或基因组 DNA 和转录本水平的断点分析。
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