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 study the mutation of proteolipid protein 1 gene in a Chinese pedigree with Pelizaeus-Merzbacher disease ( PMD ). Methods Clinical data were collected from proband and his six family members. Multiplex ligation-dependent probe amplification ( MLPA ) technique and direct DNA sequencing were used for detecting PLPl gene copy number variation and point mutation,respectively. Correlation between genotype and phenotype was analyzed for the pedigree. Results The proband ( V: 4 ) of this pedigree was clinically diagnosed with PMD. The c. 96C > G ( p. F32L ) was identified in exon 2 of PLPl gene from proband. The c. 96C > G ( p. F32L ) heterozygous change was found in proband' s mother( Ⅳ: 15 ),maternal grandmother ( Ⅲ: 20 ) and grand grandmother (Ⅱ: 7 ) with normal phenotype. Conclusion This study has proved that the c. 96C > G ( p. F32L ) hemizygous mutation of PLPl gene from proband. The results might provide the exact genetic counseling and the prenatal diagnosis for this PMD pedigree.
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