山西医科大学学报2012，Vol.43Issue(5)：331-336,6.DOI:10.3969/J.ISSN.1007-6611.2012.05.004
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
摘要
Abstract
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.关键词
佩梅病/蛋白脂蛋白1/突变Key words
Pelizaeus-Merzbacher disease( PMD )/proteolipid protein l( PLPl )/mutation分类
医药卫生引用本文复制引用
赵璐,王静敏,吴晔,牛争平,寇丽萍,李东晓,姜玉武..一个佩梅病大家系蛋白脂蛋白1基因突变分析[J].山西医科大学学报,2012,43(5):331-336,6.基金项目
国家重大科学研究计划基金资助项目(2012CB944602) （2012CB944602）
