Electrophoretic variation in human serum ceruloplasmin: A new genetic polymorphism

Shreffler, Donald C.; Brewer, George J.; Gall, John C.; Honeyman, Merton S.

doi:10.1007/bf00486512

Cited by 59 publications

(17 citation statements)

References 13 publications

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“…The technique of Shreffler et al (1967) was used. Further examination of caeruloplasmin variants was carried out in acrylamide gel slab electrophoresis.…”

Section: Caeruloplasmin Typingmentioning

confidence: 99%

Variants in Human Serum Albumin and Caeruloplasmin in Populations From Australia, New Guinea, South Africa and India

McDermid¹

1971

Aust J Exp Biol Med

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Summary A survey of serum albumin and caeruloplasmin variants in populations of Australian Aborigines, Australian Caucasian, South African Bantu, Indians and New Cuinea indigenes has been carried out. One serum albumin variant in 595 samples from New Cuinea was detected. The variant phenotype contained a band migrating more rapidly than normal phenotype but more slowly than the Albumin Naskapi. It is provisionally identified as Albumin New Cuinea in accordance with the usage of Weitkamp, Shreffler and Saave (1969). No serum albumin variants were found in the other populations sampled. Caeruloplasmin variation was common amongst Bantu, rare amongst Aborigines and absent in Indians, Caucasians and New Guinea indigenes. The frequency of the CpA gene was 0·035 in Bantu and 0·002 in Aborigines.

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“…The technique of Shreffler et al (1967) was used. Further examination of caeruloplasmin variants was carried out in acrylamide gel slab electrophoresis.…”

Section: Caeruloplasmin Typingmentioning

confidence: 99%

Variants in Human Serum Albumin and Caeruloplasmin in Populations From Australia, New Guinea, South Africa and India

McDermid¹

1971

Aust J Exp Biol Med

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“…Starch gel electrophoretic techniques were used to classify the haemolysates according to phenotype of the following markers: adenosine deaminase (ADA) [Spencer el a/., 1968], adenylate kinase (AK) [Fildes and H arris, 1966], aldolase (Aid) [Omenn and Cohen, 1971], NADH diaphorase (NADH Dia) [Hopkinson et a!., 1970], 2,3-diphosphoglyceratemutase (2,3-DPGM) [Chen et at., 1971a], glucose-6-phosphate dehydrogenase (G6PD) [Fildes and Parr, 1963], soluble glutamic oxaloacetic transaminase (sGOT) [Chen and G iblett, 1971], soluble glutamic pyruvate transaminase (sGPT) [Chen et at., 1972b], glutathione reductase (GSR) [Detter and G iblett, unpublished], glyceraldehydc-3-phosphate dehydrogenase (GAPD) [Omenn and Cohen, 1971], haemoglobin (Hb) [Huisman, 1969], hexokinase (HK) [Omenn and Cohen, 1971], dimeric indophcnol oxi dase A (IPO A) [Spencer el at., 1964;Brewer, 1967], isocitrate dehydrogenase (1CD) [Chen et at., 1972a], lactate dehydrogenase (LDH) [Davidson et at., 1965], peptidases A, B, C, and D (Pep A, B, C and D) [Lewis and Harris, 1967], phosphofructokinase (PFK) [Omenn and Cohen, 1971], phosphoglucomutase (PGM, and PGM») [Spencer et at., 1964], 6-phosphogluconate dehydrogenase (PGD) [Fildes and Parr, 1963], phosphoglycerate kinase (PGK) [Chen et at., 1971b], phosphoglyceratemutase (PGAM) [Chen et at., 1974], phosphoglucoisomerase (PG1) [Detter et at., 1968], phosphopyruvate hydratase (PPH) [Omenn and Cohen, 1971], red cell acid phosphatase (AcP) [Hopkinson and H arris, 1969], and pyruvate kinase (PK) [Omenn and Cohen, 1971], Serum samples were screened by the rapid tube test of Morrow and Motulsky [1968] for their E, cholin esterase phenotypes and by starch gel electrophoresis for their E2 cholinesterase [Harris et at., 1963], albumin (Alb) [Kueppers and Bearn, 1966], ceruloplasmin (Cp), haptoglobin (Hp), and transferrin (Tf) [Shref...…”

Section: Methodsmentioning

confidence: 99%

Genetic Markers in Blood in a Canadian Eskimo Population with a Comparison of Allele Frequencies in Circumpolar Populations

McAlpine¹,

Chen²,

Cox³

et al. 1974

Hum Hered

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38 genetically determined marker systems were examined in blood samples obtained from a relatively isolated population of Eskimos living in the Eastern Canadian Arctic. 2,3-DPGM, sGOT, sGPT, PGM_1; 6PGD, AcP, E₂ cholinesterase, haptoglobin, Gm, Inv, and HL-A were found to exist in polymorphic form, while no variation of the remaining 27 markers was detected in the population. The 2,3-DPGM 2–1 phenotype, which has hitherto been considered to be a rare phenotype, occurred in 3.6% of the individuals studied. One previously undescribed rare variant sGPT 5–1 was detected. Comparisons of the data for circumpolar populations indicate that the PGM²₁ allele frequencies form a gradient of increasing magnitude from west to east in Arctic populations; a suggestion of a decreasing gradient of red cell acid phosphatase P^aallele frequencies was found from west to east in these populations. Approximately 6% of the genes in the Igloolik gene pool appeared to be Caucasoid. The incidence of polymorphisms and the average degree of heterozygosity in this relatively isolated population were not found to differ statistically from the corresponding estimates for a large random mating population with little inbreeding.

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“…CP is functionally similar to two small blue proteins, plastocyanin and azurin, from plants and bacteria, respectively (2). Inherited alterations have been found in human CP (3)(4)(5). None ofthese has been extensively analyzed.…”

mentioning

confidence: 99%

Characterization, mapping, and expression of the human ceruloplasmin gene.

Yang

Naylor

Lum

et al. 1986

Proc. Natl. Acad. Sci. U.S.A.

125

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Ceruloplasmin (CP) is a copper-binding protein in vertebrate plasma. It is the product of an intragenic triplication and is composed of three homologous domains. Oligonucleotide probes constructed according to published amino acid sequences were used to identify cDNA clones encoding human CP. Two clones, CP-1 and CP-2, differed from each other by the presence or absence, respectively, of a deduced sequence of four amino acids. The two clones provided 81% of the sequence encoding CP. Comparison of the nucleotides of the three domains of the CP coding sequence revealed internal domain homology with identity of sequences ranging from 50.1% to 56%. The nucleotide sequence of CP-2 cDNA was compared to that of a homologous human protein, clotting factor VIII, and was found to be 48% identical overall. The CP gene was mapped to human chromosome 3 by somatic-cellhybrid analysis and to 3q25 by in situ hybridization; however, sites of hybridization to DNA on other chromosomal sites suggested additional CP-like DNA sequences in the human genome. A DNA polymorphism was detected with CP cDNA after endonuclease digestion of human DNA by Pst I. CP mRNA was detected in human liver, macrophages, and lymphocytes by in situ histohybridization.

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Electrophoretic variation in human serum ceruloplasmin: A new genetic polymorphism

Cited by 59 publications

References 13 publications

Variants in Human Serum Albumin and Caeruloplasmin in Populations From Australia, New Guinea, South Africa and India

Variants in Human Serum Albumin and Caeruloplasmin in Populations From Australia, New Guinea, South Africa and India

Genetic Markers in Blood in a Canadian Eskimo Population with a Comparison of Allele Frequencies in Circumpolar Populations

Characterization, mapping, and expression of the human ceruloplasmin gene.

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