在一个患有佩利措伊斯-梅茨巴赫病的德国家庭中，蛋白脂质蛋白（PLP）基因出现了一种新的突变。
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
作者信息
Pratt V M, Trofatter J A, Schinzel A, Dlouhy S R, Conneally P M, Hodes M E
机构信息
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
出版信息
Am J Med Genet. 1991 Jan;38(1):136-9. doi: 10.1002/ajmg.1320380129.
A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.
在一个患有佩利措伊斯-梅茨巴赫病的德国家庭中，在2名患病男性和2名肯定携带者中发现了PLP基因外显子4中的C到T转换。该突变导致一个HphI位点缺失，并使第155位氨基酸由苏氨酸变为异亮氨酸，在108条正常染色体中未发现该突变。在这个家族中，这些结果与通过磁共振成像获得的结果之间有5个一致性和1个差异。
Zotero 插件