The postulated X-inactivation center at Xq27 is most reasonably explained by ascertainment bias: heterozygous expression of recessive mutations is a powerful means of detecting unbalanced X inactivation.
作者信息
Migeon B R
出版信息
Am J Hum Genet. 1993 Feb;52(2):431-4.
Abstract
摘要
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本文引用的文献
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GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.带有性连锁标记的基因检测：葡萄糖-6-磷酸脱氢酶
Cold Spring Harb Symp Quant Biol. 1964;29:415-25. doi: 10.1101/sqb.1964.029.01.043.
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Sex-linked electrophoretic difference in glucose-6-phosphate dehydrogenase.葡萄糖-6-磷酸脱氢酶的性连锁电泳差异
Am J Hum Genet. 1963 Sep;15(3):241-58.
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Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease.随机X染色体失活导致Xp21.1----p21.3区域的镶嵌性缺失，与鸟氨酸转氨甲酰酶缺乏症和慢性肉芽肿病的杂合性相关。
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Clonal analysis using recombinant DNA probes from the X-chromosome.使用来自X染色体的重组DNA探针进行克隆分析。
Cancer Res. 1987 Sep 15;47(18):4806-13.
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Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome.一名患有Xq27间质缺失的智力发育迟缓女孩的异常X染色体失活：对脆性X综合征的启示。
Hum Genet. 1990 Mar;84(4):347-52. doi: 10.1007/BF00196232.
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Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.与非突变X染色体不平衡失活相关的Xq27-q28缺失的特征分析。
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Do sequences in Xq27.3 play a role in X inactivation?Xq27.3区域的序列在X染色体失活中起作用吗？
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Evidence for the inactivation of an X chromosome early in the development of the human female.关于人类女性发育早期X染色体失活的证据。
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In search of nonrandom X inactivation: studies of the placenta from newborns heterozygous for glucose-6-phosphate dehydrogenase.
Basic Life Sci. 1978;12:379-91. doi: 10.1007/978-1-4684-3390-6_26.
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