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日本血小板蛋白的杂合性与种族差异。

Heterozygosity and ethnic variation in Japanese platelet proteins.

作者信息

Asakawa J, Neel J V, Takahashi N, Satoh C, Kaneoka S, Nishikori E, Fujita M

机构信息

Department of Genetics, Radiation Effects Research Foundation, Hiroshima, Japan.

出版信息

Hum Genet. 1988 Jan;78(1):1-8. doi: 10.1007/BF00291224.

DOI:10.1007/BF00291224
PMID:3422209
Abstract

Sixty-two polypeptides visualized on silver-stained two-dimensional polyacrylamide gel electrophoresis (2-D PAGE) preparations of platelets from 85 Japanese subjects, in total 5,252 spots, have been scored for genetic variation. Inherited variants of 11 of the polypeptides were recognized; the index of heterozygosity was 2.4% +/- 0.2%. Thus far, 10 genetic polymorphisms identified by 2-D PAGE of plasma, erythrocytes, or platelets have been identified in both Japanese and Caucasian subjects. A comparison of allele frequencies reveals four significant ethnic differences. We also observed four polypeptides exhibiting a low frequency polymorphism in one group but not in the other, as well as three polymorphisms in Caucasians for which no counterpart polypeptide has thus far been recognized in the Japanese group and, vice versa, 11 such polymorphisms in Japanese. Although a similar comparison of 7 enzyme polymorphisms studied with one-dimensional electrophoresis (1-D E) in the same populations revealed a relatively higher number of significant ethnic differences, evidence is presented that this is due primarily to the greater number of 1-D E observations entering into the calculation. It is argued that this similarity in the frequency of ethnic differences among the polypeptides studied by 2-D PAGE and by 1-D E is further evidence that the proteins revealed by 2-D PAGE do not differ greatly in their response to the interplay of mutation, selection, and drift from those revealed by 1-D E studies of plasma proteins and erythrocyte enzymes.

摘要

在对85名日本受试者血小板进行银染二维聚丙烯酰胺凝胶电泳(2-D PAGE)制备时,共观察到62种多肽,总计5252个斑点,并对其遗传变异进行了评分。已识别出11种多肽的遗传变异体;杂合度指数为2.4%±0.2%。到目前为止,通过血浆、红细胞或血小板的二维聚丙烯酰胺凝胶电泳识别出的10种遗传多态性在日本人和高加索人中均已得到确认。等位基因频率的比较揭示了四个显著的种族差异。我们还观察到四种多肽在一组中表现出低频多态性,而在另一组中未观察到,以及高加索人中的三种多态性,在日本人群体中尚未识别出相应的多肽,反之亦然,日本人中有11种此类多态性。尽管在同一人群中对7种酶多态性进行一维电泳(1-D E)研究的类似比较显示,显著的种族差异数量相对较多,但有证据表明,这主要是由于参与计算的一维电泳观察数量较多。有人认为,二维聚丙烯酰胺凝胶电泳和一维电泳研究的多肽中种族差异频率的这种相似性,进一步证明了二维聚丙烯酰胺凝胶电泳揭示的蛋白质在对突变、选择和漂变相互作用的反应方面,与血浆蛋白和红细胞酶的一维电泳研究揭示的蛋白质没有太大差异。

相似文献

1
Heterozygosity and ethnic variation in Japanese platelet proteins.日本血小板蛋白的杂合性与种族差异。
Hum Genet. 1988 Jan;78(1):1-8. doi: 10.1007/BF00291224.
2
Two-dimensional gel studies of genetic variation in the plasma proteins of Amerindians and Japanese.美洲印第安人和日本人血浆蛋白遗传变异的二维凝胶研究。
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3
A new genetic polymorphism in human platelet polypeptides detected by two-dimensional electrophoresis.通过二维电泳检测到的人类血小板多肽中的一种新的基因多态性。
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4
Genetic analysis of thirty-three platelet polypeptides detected in two-dimensional polyacrylamide gels.对二维聚丙烯酰胺凝胶中检测到的33种血小板多肽进行基因分析。
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5
Inherited electrophoretic variants detected in a Japanese population with two-dimensional gels of erythrocyte lysates.在日本人群中通过红细胞裂解物的二维凝胶检测到的遗传性电泳变异体。
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6
Two-dimensional electrophoresis of plasma polypeptides reveals "high" heterozygosity indices.血浆多肽的二维电泳显示出“高”杂合性指数。
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Genetic variants detected among 106 lymphocyte polypeptides observed in two-dimensional gels.在二维凝胶中观察到的106种淋巴细胞多肽中检测到的基因变体。
Am J Hum Genet. 1986 Sep;39(3):317-28.
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Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations.美洲印第安人群体中的罕见变异、私有多态性和基因座杂合性。
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Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis. VIII. Genetic polymorphism of cytosol polypeptide with molecular weight of 20,000.用双向凝胶电泳法对人淋巴细胞蛋白质进行遗传分析。VIII. 分子量为20000的胞质溶胶多肽的遗传多态性
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10
Identification of genetic variants in erythrocyte lysate by two-dimensional gel electrophoresis.通过二维凝胶电泳鉴定红细胞裂解液中的基因变体。
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引用本文的文献

1
Average locus differences in mutability related to protein "class": a hypothesis.与蛋白质“类别”相关的突变性中的平均基因座差异:一种假说。
Proc Natl Acad Sci U S A. 1990 Mar;87(6):2062-6. doi: 10.1073/pnas.87.6.2062.

本文引用的文献

1
Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report.探寻原子弹爆炸幸存者子女中影响蛋白质结构的突变:初步报告。
Proc Natl Acad Sci U S A. 1980 Jul;77(7):4221-5. doi: 10.1073/pnas.77.7.4221.
2
Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: VI. Identification of esterase D in the two-dimensional gel electrophoresis pattern of cellular proteins.通过二维凝胶电泳对人淋巴细胞蛋白质进行遗传分析:VI. 在细胞蛋白质二维凝胶电泳图谱中鉴定酯酶D
Hum Genet. 1984;66(2-3):248-51. doi: 10.1007/BF00286611.
3
Genetic analysis of human lymphocyte proteins by two-dimensional gel electrophoresis: V. Genetic polymorphism of cytosol 31k polypeptide.
用二维凝胶电泳法对人淋巴细胞蛋白质进行遗传分析:V. 胞质31k多肽的遗传多态性
Hum Genet. 1984;66(2-3):244-7. doi: 10.1007/BF00286610.
4
Human lymphocyte polymorphisms detected by quantitative two-dimensional electrophoresis.通过定量二维电泳检测的人类淋巴细胞多态性。
Am J Hum Genet. 1983 Sep;35(5):827-37.
5
Two-dimensional electrophoresis of plasma polypeptides reveals "high" heterozygosity indices.血浆多肽的二维电泳显示出“高”杂合性指数。
Proc Natl Acad Sci U S A. 1983 Aug;80(16):5002-6. doi: 10.1073/pnas.80.16.5002.
6
Electrophoretic variants of blood proteins in Japanese. III. Triosephosphate isomerase.日本人血液蛋白质的电泳变异体。III. 磷酸丙糖异构酶
Hum Genet. 1984;68(2):185-8. doi: 10.1007/BF00279312.
7
Identification of genetic variants in erythrocyte lysate by two-dimensional gel electrophoresis.通过二维凝胶电泳鉴定红细胞裂解液中的基因变体。
Am J Hum Genet. 1984 May;36(3):601-12.
8
Separation of allelic variants by two-dimensional electrophoresis.通过二维电泳分离等位基因变体。
Am J Hum Genet. 1982 Mar;34(2):209-15.
9
Silver stain for proteins in polyacrylamide gels: a modified procedure with enhanced uniform sensitivity.聚丙烯酰胺凝胶中蛋白质的银染:一种具有增强均匀灵敏度的改良方法。
Anal Biochem. 1981 Nov 1;117(2):307-10. doi: 10.1016/0003-2697(81)90783-1.
10
A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms.人类蛋白质中遗传变异量的修订估计:对DNA多态性分布的影响
Am J Hum Genet. 1984 Sep;36(5):1135-48.