一个佩梅病大家系蛋白脂蛋白1基因突变分析  

Study on proteolipid protein 1 gene mutation in a Chinese pedigree with Pelizaeus-Merzbacher disease

作　　者：赵璐[1,2] 王静敏[1] 吴晔[1] 牛争平[2] 寇丽萍[1,2] 李东晓[1] 姜玉武[1] 

机构地区：[1]北京大学第一医院儿科,北京100034 [2]山西医科大学第一临床医学院神经内科

出　　处：《山西医科大学学报》2012年第5期331-336,共6页Journal of Shanxi Medical University

基　　金：国家重大科学研究计划基金资助项目(2012CB944602)

摘　　要：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 PLP1 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.96CG（p.F32L） was identified in exon 2 of PLP1 gene from proband.The c.96CG（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.96CG（p.F32L） hemizygous mutation of PLP1 gene from proband.The results might provide the exact genetic counseling and the prenatal diagnosis for this PMD pedigree.

关 键 词：佩梅病 蛋白脂蛋白1 突变 

分 类 号：R596[医药卫生—内科学]