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Identification of cystic fibrosis homozygotes and heterozygotes by isoelectric focusing of serum proteins.

作者信息

Getliffe K A, Ward L C, Shepherd R W

出版信息

J Inherit Metab Dis. 1986;9(4):348-56. doi: 10.1007/BF01800484.

DOI:10.1007/BF01800484
PMID:3104672
Abstract

Screening of 44 cystic fibrosis homozygotes, 17 heterozygotes and 36 normal controls, by identification of cystic fibrosis protein (CFP), was performed on sera using an improved isoelectric focusing technique. CFP was observed in 91% of homozygotes, 88% of heterozygotes and 8% of normal controls tested. Partial purification of CFP by chromatofocussing indicates that CFP has a molecular weight of about 52,000 u. It is speculated that CFP is a normal serum protein that exhibits a quantitative difference in concentration between CF homozygotes, heterozygotes and normals.

摘要

相似文献

1
Identification of cystic fibrosis homozygotes and heterozygotes by isoelectric focusing of serum proteins.
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2
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本文引用的文献

1
A study of isoelectric focusing in polyacrylamide gels of serum proteins as a cystic fibrosis screening test.
Clin Chim Acta. 1981 Nov 25;117(1):103-10. doi: 10.1016/0009-8981(81)90014-0.
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Detection of cystic fibrosis homozygotes and heterozygotes by serum isoelectrofocusing.
Hum Genet. 1981;56(3):387-9. doi: 10.1007/BF00274698.
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Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis.用于囊性纤维化诊断和携带者检测的定量免疫测定法。
Clin Genet. 1982 May;21(5):336-41. doi: 10.1111/j.1399-0004.1982.tb01380.x.
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Controlled trial of serum isoelectric focusing in the detection of the cystic fibrosis gene.
Hum Genet. 1982;60(1):30-1. doi: 10.1007/BF00281259.
5
Detection of the cystic fibrosis protein by isoelectric focusing of serum and plasma.
Pediatr Res. 1984 Feb;18(2):130-3. doi: 10.1203/00006450-198402000-00003.
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Controlled comparison of plasma and serum for cystic fibrosis protein.
Clin Genet. 1984 Oct;26(4):331-8. doi: 10.1111/j.1399-0004.1984.tb01068.x.
7
Isoelectric focusing of serum in genetic counselling of families with cystic fibrosis.在囊性纤维化家族遗传咨询中血清的等电聚焦
Am J Med Genet. 1984 Jul;18(3):449-53. doi: 10.1002/ajmg.1320180314.
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Cleavage of structural proteins during the assembly of the head of bacteriophage T4.在噬菌体T4头部组装过程中结构蛋白的切割
Nature. 1970 Aug 15;227(5259):680-5. doi: 10.1038/227680a0.
9
Demonstration of serum protein differences in cystic fibrosis by isoelectric focusing in thin-layer polyacrylamide gels.通过在薄层聚丙烯酰胺凝胶中进行等电聚焦来证明囊性纤维化患者血清蛋白的差异。
Clin Chim Acta. 1973 Nov 23;49(1):79-91. doi: 10.1016/0009-8981(73)90346-x.
10
Quantitative variation in cystic fibrosis-associated proteins in cystic fibrosis patients, carriers, and controls.
Hum Genet. 1985;70(2):168-71. doi: 10.1007/BF00273076.