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目的分析并确定佩梅病(PMD)一大家系蛋白脂蛋白1(PLP1)基因突变及遗传特征。方法收集先证者及其家系成员临床资料,采用多重连接依赖的探针扩增(MLPA)方法进行PLP1基因重复突变检测、DNA直接测序进行PLP1基因点突变检测,分析基因型与表型的关系。结果本家系先证者(Ⅴ∶4)符合临床诊断PMD。PLP1基因检测结果发现先证者(Ⅴ∶4)存在第2外显子c.96C>G(p.F32L)的半合子改变,先证者之母(Ⅳ∶16)、外祖母(Ⅲ∶20)与曾外祖母(Ⅱ∶7)存在与先证者相同的c.96C>G(p.F32L)杂合改变,为表型正常的携带者。结论本家系中先证者为PLP1基因c.96C>G(p.F32L)半合子突变致病,明确了本家系PLP1基因突变与遗传特征,为准确的遗传咨询和进一步的产前诊断打下了基础。
Objective To analyze and determine the gene mutation and genetic characteristics of PLP1 in a pedigree of Pemetrex disease (PMD). Methods The clinical data of probands and their family members were collected. Multiplexed-dependent probe amplification (MLPA) was used to detect repeated mutations of PLP1 gene. DNA sequencing was performed to detect point mutations in PLP1 gene. The relationship between genotypes and phenotypes was analyzed . Results The family of proband (Ⅴ: 4) in line with the clinical diagnosis of PMD. PLP1 gene test results showed that the proband (Ⅴ: 4) exon 2 exon c.96C> G (p.F32L) hemizygous changes, the proband’s mother (Ⅳ: 16), the grandmother (Ⅲ:20 ) And former grandmother (Ⅱ: 7) the same as the proband the same c.96C> G (p.F32L) heterozygous for the normal phenotype carriers. Conclusion The proband in this pedigree is the pathogen of hemizygous mutation of c.96C> G (p.F32L) in PLP1 gene. The mutations and genetic characteristics of PLP1 gene in this pedigree were clarified, which laid the foundation for accurate genetic counseling and further prenatal diagnosis basis.