X连锁免疫缺陷的携带者检测。II：基于DXS255位点LINE-1重复序列差异甲基化的X染色体失活检测法。
Carrier detection in X-linked immunodeficiencies. II: An X inactivation assay based on differential methylation of a line-1 repeat at the DXS255 locus.
作者信息
Hinds H, Craig I W, Chen Z Y, Kraakman M E, Schuurman R K, Hendriks R W
机构信息
Department of Biochemistry, University of Oxford, UK.
出版信息
Immunodeficiency. 1993;4(1-4):213-5.
PMID:8167703
Abstract
The differential methylation of a CpG island 2.5 kb distant from a hypervariable region at the DXS255 locus provides the basis for a Southern blotting X chromosome inactivation analysis system. The technique enables carrier detection in about 90% of females at risk from pedigrees with Wiskott-Aldrich syndrome, X-linked severe combined immunodeficiency or X-linked agammaglobulinemia.
摘要
位于DXS255位点高变区2.5 kb处的一个CpG岛的差异甲基化为Southern印迹X染色体失活分析系统提供了基础。该技术能够在约90%有患维斯科特-奥尔德里奇综合征、X连锁重症联合免疫缺陷或X连锁无丙种球蛋白血症风险的家系中的女性携带者中进行检测。
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