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女性亨特综合征由单个突变和家族性 XCI 偏倚引起:对其他 X 连锁疾病的影响。

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.

机构信息

Department of Molecular Biology, University of Gdańsk, Poland.

出版信息

Clin Genet. 2011 Nov;80(5):459-65. doi: 10.1111/j.1399-0004.2010.01574.x. Epub 2010 Nov 10.

Abstract

Familial X-chromosome inactivation (XCI) skewing was investigated in a family in which a female mucopolysaccharidosis type II (MPS II) (Hunter syndrome, an X-linked genetic disease) occurred. Among eight related females aged under 60 years from three generations who were tested, four revealed a non-random pattern of XCI. Detailed genetic analysis failed to find mutations in genes that were previously reported as important for the XCI process. Haplotype analysis excluded linkage of non-random XCI with genes localized on the X-chromosome. We propose that analysis of the XCI pattern should be taken into consideration when assessing risk factors for X-linked recessive genetic disorders.

摘要

家族性 X 染色体失活(XCI)偏倚在一个家族中进行了研究,该家族中出现了一名女性黏多糖贮积症 II 型(MPS II)(亨特综合征,一种 X 连锁遗传疾病)患者。在三代共 8 名年龄在 60 岁以下的相关女性中进行了检测,其中 4 人显示出 XCI 的非随机模式。详细的基因分析未能发现先前报道的对 XCI 过程重要的基因发生突变。单倍型分析排除了非随机 XCI 与定位于 X 染色体上的基因的连锁。我们建议,在评估 X 连锁隐性遗传疾病的危险因素时,应考虑 XCI 模式的分析。

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