INTERACTION OF INCONTINENTIA PIGMENTI AND FACTOR-VIII MUTATIONS IN A FEMALE WITH BIASED X-INACTIVATION, RESULTING IN HEMOPHILIA
INTERACTION OF INCONTINENTIA PIGMENTI AND FACTOR-VIII MUTATIONS IN A FEMALE WITH BIASED X-INACTIVATION, RESULTING IN HEMOPHILIA
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DOI：
10.1136/jmg.30.6.497
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发表时间：
1993-06-01
影响因子：
4
通讯作者：
WILKIE, AOM
中科院分区：
文献类型：
--
作者：
COLEMAN, R;GENET, SA;WILKIE, AOM
我们报告一名女婴出生的母亲色素失禁（IP）和血友病A，谁表现出这两种疾病的父亲。从婴儿，她的母亲，和两个女性亲属与IP的外周血DNA分析显示了一个高度偏态的X失活模式。在婴儿的两个姐妹篇中观察到随机模式，她们没有IP并且具有正常的因子VIII携带者活性。携带IP突变的X染色体的优先失活，可能是通过阴性选择，似乎揭示了婴儿另一条X染色体上的因子VIII突变。这说明了一个不寻常的机制，表现为一个X连锁疾病的杂合子女性。
We report a female infant born to a mother with incontinentia pigmenti (IP) and a father with haemophilia A, who manifests both disorders. Analysis of peripheral blood DNA from the infant, her mother, and two female relatives with IP showed a highly skewed pattern of X inactivation. Random patterns were observed in the infant's two sisters, who do not have IP and have normal carrier activity of factor VIII. Preferential inactivation of the X chromosome bearing the IP mutation, probably by negative selection, appears to have unmasked the factor VIII mutation on the infant's other X chromosome. This illustrates an unusual mechanism for the manifestation of an X linked disease in a heterozygous female.