在源自睾丸女性化综合征杂合携带者的克隆成纤维细胞中突变雄激素受体的表达。
Expression of a mutant androgen receptor in cloned fibroblasts derived from a heterozygous carrier for the syndrome of testicular feminization.
作者信息
Elawady M K, Allman D R, Griffin J E, Wilson J D
出版信息
Am J Hum Genet. 1983 May;35(3):376-84.
Abstract
Thermolability of androgen binding was compared in fibroblasts cloned from normal female skin, skin from a subject with testicular feminization whose mutation is known to be associated with a thermolabile androgen receptor, and from the mother of the subject with testicular feminization. Seven of 28 clones studied from the mother exhibited thermolability of binding, indicating that the mutant gene that causes thermolability of binding, like the gene responsible for the normal androgen receptor, is X-linked.
摘要
对从正常女性皮肤克隆的成纤维细胞、来自一名雄激素不敏感综合征患者（已知其突变与热不稳定雄激素受体相关）的皮肤以及该雄激素不敏感综合征患者母亲的皮肤中的雄激素结合热稳定性进行了比较。从母亲的皮肤中研究的28个克隆中有7个表现出结合热稳定性，这表明导致结合热稳定性的突变基因与负责正常雄激素受体的基因一样，是X连锁的。
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本文引用的文献
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Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor.由于雄激素受体质量异常导致的先天性雄激素不敏感。
Am J Med Genet. 1981;10(1):91-9. doi: 10.1002/ajmg.1320100111.
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Qualitative receptor defects in families with androgen resistance: failure of stabilization of the fibroblast cytosol androgen receptor.雄激素抵抗家族中的定性受体缺陷：成纤维细胞胞质雄激素受体的稳定失败。
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Human complete androgen insensitivity with normal dihydrotestosterone receptor binding capacity in cultured genital skin fibroblasts: evidence for a qualitative abnormality of the receptor.培养的生殖器皮肤成纤维细胞中具有正常二氢睾酮受体结合能力的人类完全雄激素不敏感：受体定性异常的证据。
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Comparison of methyltrienolone and dihydrotestosterone binding and metabolism in human genital skin fibroblasts.甲基三烯醇酮与双氢睾酮在人生殖器皮肤成纤维细胞中的结合及代谢比较
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Studies of the locus for androgen receptor: localization on the human X chromosome and evidence for homology with the Tfm locus in the mouse.雄激素受体基因座的研究：定位于人类X染色体以及与小鼠Tfm基因座同源性的证据。
Proc Natl Acad Sci U S A. 1981 Oct;78(10):6339-43. doi: 10.1073/pnas.78.10.6339.
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Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.肾上腺脑白质营养不良：X连锁、失活以及杂合细胞中有利于突变等位基因的选择的证据。
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X-linked gene for testicular feminization in the mouse.小鼠睾丸女性化的X连锁基因。
Nature. 1970 Sep 19;227(5264):1217-9. doi: 10.1038/2271217a0.
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Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.莱施-奈恩综合征杂合子红细胞中葡萄糖-6-磷酸脱氢酶的半合子表达。
Proc Natl Acad Sci U S A. 1970 Jan;65(1):214-8. doi: 10.1073/pnas.65.1.214.
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