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目的分析1个中国佩-梅病家系的临床特征及遗传学特点,以提高对该病的认识,并为国内佩-梅病患者的确诊、遗传咨询及产前诊断打下基础。方法收集临床诊断为佩-梅病的先证者及其家系成员的临床资料及14例 DNA 样本,对临床症状体征、影像学特点进行分析,并采用多重连接依赖的探针扩增方法进行致病基因 PLP1重复突变检测,确定基因突变类型,分析基因型与表型的关系。结果先证者存在 PLP1基因重复突变,结合先证者及家系中其他男性患者临床特点可确诊为经典型佩-梅病。另检出3例家系中表型正常女性携带 PLP1基因重复突变。结论该家系由PLP1基因重复突变导致经典型佩-梅病,符合国外报道的基因型-表型关系;上述结果是为该家系提供可靠遗传咨询及产前诊断的依据;多重连接依赖的探针扩增这一新方法可用于快速、准确地检测PLP1的全基因重复。
Objective To analyze the clinical features and genetic features of a Chinese Pei-Mei’s pedigree to improve its understanding of the disease and lay a foundation for the diagnosis, genetic counseling and prenatal diagnosis of Pei-Mei disease in China. Methods The clinical data of probands and their pedigrees diagnosed as Pemetrex disease and 14 cases of DNA samples were collected to analyze clinical signs and symptoms and imaging features and to make use of multiplexed connection-dependent probe amplification PLP1 disease gene mutation detection repeated to determine the type of gene mutation, analysis of the relationship between genotypes and phenotypes. Results There was a repeat mutation of PLP1 gene in probands. Combined with the clinical features of probands and other male patients in the pedigree, it could be diagnosed as classic Pei-Mei disease. In addition, three cases of normal phenotype in the pedigree were found to carry repeated mutations of PLP1 gene. Conclusion The mutation of PLP1 gene leads to classical Pemetrex disease, which is in line with genotype-phenotype reported in foreign countries. The above results provide a reliable basis for genetic counseling and prenatal diagnosis of this pedigree. Multiplex-dependent probes This new method of amplification can be used to rapidly and accurately detect whole-genome repeats of PLP1.