Carrier detection in X-linked immunodeficiencies. II: An X inactivation assay based on differential methylation of a line-1 repeat at the DXS255 locus.

Immunodeficiency Pub Date : 1993-01-01
H Hinds, I W Craig, Z Y Chen, M E Kraakman, R K Schuurman, R W Hendriks
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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.

x连锁免疫缺陷的携带者检测。II:基于DXS255位点1行重复序列差异甲基化的X失活试验。
距离DXS255位点高变区2.5 kb的CpG岛的差异甲基化为Southern blotting X染色体失活分析系统提供了基础。这项技术能够在大约90%的具有Wiskott-Aldrich综合征、x连锁严重联合免疫缺陷或x连锁无球蛋白血症谱系风险的女性中检测到携带者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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