法布里病家族中X染色体优先失活的证据。
Evidence for preferential X-chromosome inactivation in a family with Fabry disease.
作者信息
Ropers H H, Wienker T F, Grimm T, Schroetter K, Bender K
出版信息
Am J Hum Genet. 1977 Jul;29(4):361-70.
Abstract
Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.
摘要
在一名男性患者的八名杂合子女儿中，有四名出现了法布里病的严重临床症状。症状携带者血清、白细胞和发根中的α-半乳糖苷酶A活性明显低于正常水平的50%。仅根据随机X染色体失活很难解释这些发现；本文讨论了几种替代模型，包括非随机（优先）X染色体失活。
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本文引用的文献
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The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.弥漫性躯体血管角质瘤（法布里病）的遗传学及其与Xg基因座的连锁关系。
Am J Hum Genet. 1965 Jul;17(4):325-42.
2
The applications of genetic mosaicism to developmental problems.基因嵌合现象在发育问题中的应用。
Annu Rev Genet. 1971;5:143-62. doi: 10.1146/annurev.ge.05.120171.001043.
3
Linkage relationships of the angiokeratoma (Fabry) locus.血管角质瘤（法布里病）基因座的连锁关系。
Ann Hum Genet. 1969 May;32(4):369-74. doi: 10.1111/j.1469-1809.1969.tb00088.x.
4
X chromosome inactivation mosaicism in the mouse.小鼠中的X染色体失活嵌合现象。
Dev Biol. 1971 Oct;26(2):252-63. doi: 10.1016/0012-1606(71)90125-4.
5
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6
Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.患有莱施-奈恩突变杂合子的女性外周血淋巴细胞群体的镶嵌现象。
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