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用放射性配体检测基因变异。IV. 甲状腺素结合球蛋白(TBG)的X连锁多态性基因变异。

Detection of genetic variation with radioactive ligands. IV. X-linked, polymorphic genetic variation of thyroxin-binding globulin (TBG).

作者信息

Daiger S P, Rummel D P, Wang L, Cavalli-Sforza L L

出版信息

Am J Hum Genet. 1981 Jul;33(4):640-8.

PMID:6789676
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685094/
Abstract

A genetically determined, polymorphic electrophoretic variant of thyroxin-binding alpha-globulin (TBG) is found in sera from populations of African and Oceania origin, although not in Caucasians nor Orientals. The TBG polymorphism is inherited in X-linked fashion, based on data from American blacks, and thus provides an X-chromosome marker with a relatively high gene frequency in this ethnic group (frequency of the slow allele, TBGs, is 11%). This slow variant should prove valuable in expanding the map of the X chromosome and in linkage studies. An additional family exhibiting X-linked TBG deficiency is also described.

摘要

在非洲和大洋洲裔人群的血清中发现了一种由基因决定的甲状腺素结合α球蛋白(TBG)多态性电泳变体,而在白种人和东方人中未发现。根据美国黑人的数据,TBG多态性以X连锁方式遗传,因此在该种族群体中提供了一个基因频率相对较高的X染色体标记(慢等位基因TBGs的频率为11%)。这种慢变体在扩展X染色体图谱和连锁研究中应具有重要价值。还描述了另一个表现为X连锁TBG缺乏的家系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/ae0ef07596fe/ajhg00364-0154-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/6f468055d636/ajhg00364-0150-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/cda5f020b27c/ajhg00364-0151-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/ae0ef07596fe/ajhg00364-0154-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/6f468055d636/ajhg00364-0150-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/cda5f020b27c/ajhg00364-0151-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3630/1685094/ae0ef07596fe/ajhg00364-0154-a.jpg

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引用本文的文献

1
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2
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3
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本文引用的文献

1
Separation of thyroxine-binding proteins in human serum at pH 7.4. II. Effect of pH and temperature on the bindng capacities of thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA).人血清中甲状腺素结合蛋白在pH 7.4条件下的分离。II. pH值和温度对甲状腺素结合球蛋白(TBG)和甲状腺素结合前白蛋白(TBPA)结合能力的影响。
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Studies on obesity. II. Slow-moving thyroxine binding globulin in the sera of normal and obese subjects.肥胖症研究。II. 正常人和肥胖者血清中移动缓慢的甲状腺素结合球蛋白
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3
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4
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Biochem Genet. 1984 Feb;22(1-2):81-8. doi: 10.1007/BF00499288.
5
Variant thyroxine-binding globulin in serum of Australian aborigines: its physical, chemical and biological properties.澳大利亚原住民血清中的变异甲状腺素结合球蛋白:其物理、化学和生物学特性。
J Endocrinol Invest. 1985 Jun;8(3):225-32. doi: 10.1007/BF03348482.
6
Variant thyroxine-binding globulin in serum of Australian aborigines: a comparison with familial TBG deficiency in Caucasians and American blacks.澳大利亚原住民血清中的变异甲状腺素结合球蛋白:与白种人和美国黑人的家族性甲状腺素结合球蛋白缺乏症的比较。
J Endocrinol Invest. 1985 Jun;8(3):217-24. doi: 10.1007/BF03348481.
7
X-linked gene expression in the Virginia opossum: differences between the paternally derived Gpd and Pgk-A loci.弗吉尼亚负鼠的X连锁基因表达:父源Gpd和Pgk - A基因座之间的差异
Genetics. 1987 Jan;115(1):185-95. doi: 10.1093/genetics/115.1.185.
8
Analysis of the reported relationship between thyroxin-binding globulin and alpha-1-antitrypsin heterogeneity.甲状腺素结合球蛋白与α-1-抗胰蛋白酶异质性之间报道关系的分析。
Biochem Genet. 1987 Feb;25(1-2):175-9. doi: 10.1007/BF00498960.
9
Circulating thyroid hormone autoantibodies.循环甲状腺激素自身抗体
J Endocrinol Invest. 1987 Dec;10(6):605-19. doi: 10.1007/BF03347008.
10
Congenital thyroxine binding globulin deficiency: incidence and inheritance.先天性甲状腺素结合球蛋白缺乏症:发病率与遗传方式
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Increased serum thyroxine-binding globulin capacity: inheritance and linkage relationships.
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J Clin Endocrinol Metab. 1970 Jan;30(1):66-70. doi: 10.1210/jcem-30-1-66.
4
The use of quantitative immunoelectrophoresis to investigate thyroxine-binding human serum proteins.利用定量免疫电泳研究甲状腺素结合人血清蛋白。
Clin Chim Acta. 1969 Nov;26(2):365-8. doi: 10.1016/0009-8981(69)90394-5.
5
The genetic polymorphism of the thyroxine-binding globulin (TBG).甲状腺素结合球蛋白(TBG)的基因多态性。
Humangenetik. 1972;14(2):85-94. doi: 10.1007/BF00273290.
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Thyroxine-binding-globulin (T.B.G.) deficiency and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in the same family.同一家庭中的甲状腺素结合球蛋白(T.B.G.)缺乏症和葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症。
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J Clin Invest. 1972 Dec;51(12):3173-81. doi: 10.1172/JCI107144.
8
Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus.对四个患有遗传性甲状腺素结合球蛋白异常的新家族的研究。单个基因位点的可能突变。
J Clin Invest. 1972 Apr;51(4):848-67. doi: 10.1172/JCI106880.
9
Thyroxine-binding globulin deficiency in three families, and total deficiency in a normal woman.三个家族中的甲状腺素结合球蛋白缺乏症,以及一名正常女性的完全缺乏症。
Am J Med. 1971 Apr;50(4):458-64. doi: 10.1016/0002-9343(71)90335-4.
10
Detection of genetic variation with radioactive ligands. I. Electrophoretic screening of plasma proteins with a selected panel of compounds.用放射性配体检测基因变异。I. 用一组选定的化合物对血浆蛋白进行电泳筛选。
Am J Hum Genet. 1977 Nov;29(6):581-92.