Wadelius C, Lindstedt M, Pigg M, Egberg N, Pettersson U, Anvret M
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Clin Genet. 1993 Jan;43(1):1-4. doi: 10.1111/j.1399-0004.1993.tb04415.x.
A female whose father had severe hemophilia B was found to have a factor IX activity of about 1%. No chromosomal abnormality could be detected and DNA analysis gave no indications of deletions or mutations of Taq I cleavage sites in the factor IX gene. Analysis of the methylation pattern of locus DXS255 indicates that the expression of hemophilia B in this patient is caused by non-random X inactivation.
一名父亲患有严重B型血友病的女性，其IX因子活性约为1%。未检测到染色体异常，DNA分析也未显示IX因子基因中Taq I切割位点有缺失或突变。对DXS255位点甲基化模式的分析表明，该患者的B型血友病是由非随机X染色体失活引起的。
Zotero 插件