https://scholars.lib.ntu.edu.tw/handle/123456789/526098
標題: | Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease | 作者: | Wang P.-J. WUH-LIANG HWU WANG-TSO LEE Wang T.-R. Shen Y.-Z. |
公開日期: | 1997 | 卷: | 17 | 期: | 2 | 起(迄)頁: | 125-128 | 來源出版物: | Pediatric Neurology | 摘要: | The classic form of Pelizaeus-Merzbacher disease is a rare X-linked dysmyelinating disorder of the central nervous system in which mutations of the proteolipid protein gene have been reported since 1989. However, mutations in the proteolipid protein gene have been identified in only 10 to 25% of all cases of Pelizaeus-Merzbacher disease, which suggests that other genetic aberrations may be present. Recently, proteolipid protein gene overdosage was discovered to cause Pelizaeus-Merzbacher disease. By using comparative multiplex polymerase chain reaction and restriction fragment length polymorphism analysis, we confirmed the proteolipid protein gene duplication as the cause of Pelizaeus-Merzbacher disease in 4 patients from 3 Chinese families with Pelizaeus-Merzbacher disease with no detectable exonic mutations. These results support the hypothesis that proteolipid protein gene duplication may be a major cause of Pelizaeus-Merzbacber disease in all ethnic groups and also suggest that the molecular diagnosis of Pelizaeus- Merzbacher disease should therefore include duplication analysis of proteolipid protein gene. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0030681255&doi=10.1016%2fS0887-8994%2897%2900088-X&partnerID=40&md5=e44195ad7e11667b3db01873fe2b2710 https://scholars.lib.ntu.edu.tw/handle/123456789/526098 |
ISSN: | 0887-8994 | DOI: | 10.1016/S0887-8994(97)00088-X | SDG/關鍵字: | proteolipid protein; article; case report; central nervous system; child; demyelination; ethnic group; gene duplication; gene mutation; genetic analysis; human; molecular genetics; pelizaeus merzbacher disease; polymerase chain reaction; priority journal; restriction fragment length polymorphism; X chromosome linkage; Diffuse Cerebral Sclerosis of Schilder; Female; Humans; Infant; Infant, Newborn; Male; Multigene Family; Myelin Proteolipid Protein; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single-Stranded Conformational; Sex Chromosome Aberrations; X Chromosome |
顯示於: | 醫學系 |
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