Identification of Several Electrophoretic Variants of Human Ceruloplasmin Including Cp&lt;sup&gt;Michigan&lt;/sup&gt;, a New Polymorphism

Mohrenweiser, Harvey W.; Decker, Robert S.

doi:10.1159/000153326

Cited by 8 publications

(7 citation statements)

References 7 publications

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“…Therefore, the variants have not been assigned names unless they have been the subject of other publications concerned with their biochemical characteristics. These would include variants a t the following loci : CRPL, Mohrenweiser & Decker, 1982 ; COTS, Wurzinger & Mohrenweiser, 1982; TPI, Asakawa & Mohrenweiser, 1982;TF, Fujita et al 1985; GPI, Mohrenweiser et al 1987 ; G6PD, Mohrenweiser & Fielek, in preparation. The allele frequencies a t the polymorphic loci are very similar to the previously published frequencies for these two ethnic groups in the United States (Mourant et al 1976;Silver, 1982;Tills et al 1983).…”

Section: Resultsmentioning

confidence: 99%

Frequency and distribution of rare electrophoretic mobility variants in a population of human newborns in Ann Arbor, Michigan

Mohrenweiser¹,

Wurzinger²,

Neel³

1987

Annals of Human Genetics

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We have summarized the frequency and distribution of the rare variants encountered during the screening of 258,815 allele products, the products of 51 different loci, in 3242 predominantly Caucasian (88%) newborns. Seventy-nine different rare variants, representing 187 occurrences, were identified. Almost 60% (46 of 79) of the rare variants occurred as singletons while another 20% were seen in two unrelated individuals. No rare variants were detected at 18 loci while no variants, either rare or polymorphic, were detected at 14 loci. More rare variants were identified at loci that were classified as polymorphic and also at loci where the gene products exist as a monomer. A positive relationship was observed between variant frequency, either classes or copies, and subunit molecular mass.

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Section: Resultsmentioning

confidence: 99%

Frequency and distribution of rare electrophoretic mobility variants in a population of human newborns in Ann Arbor, Michigan

Mohrenweiser¹,

Wurzinger²,

Neel³

1987

Annals of Human Genetics

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“…The methods employed are described or referenced in the following sources: a) blood groups, erythrocyte enzymes and serum proteins, with the exception of HLA and Gm: Harris and Hopkinson (19761, Salzano et al (1980). The ceruloplasmin variant was tested using acrylamide gradient gels, with Tris/HCl gel buffer and Tris/glycine electrode buffer (Mohrenweiser and Decker, 1982); b) Hb-selective test for the determination of abnormal types: electrophoresis at pH 8.6, as described by Naoum et al (1980), doubts being settled by means of cellulose acetate electrophoresis at the same pH, according to Schmidt and Brosius (1978); c) HLA: Black et al (1980a); d) Gm: Pandey et al (1982).…”

Section: Methodsmentioning

confidence: 99%

Genetic variation within a linguistic group: Apalai‐Wayana and other Carib tribes

Salzano

Black

Callegari-Jacques

et al. 1988

American J Phys Anthropol

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A total of 136 individuals were studied in relation to 31 genetic systems, and the results were compared with South American Indian averages and previous surveys on the Wayana of French Guiana and Surinam. The information was afterwards integrated with data from other Carib groups, and two types of genetic distances (Nei's and Edwards') were calculated a) between five groups, considering ten systems; and b) between nine groups, using five systems. The two measures of genetic distances correlated well (Spearman's correlation coefficient around 0.70), and there was good agreement between the geographical and genetic distances. All analyses indicated a peripheral position for the Apalai-Wayana and their distinctiveness from the Wayana of French Guiana and Surinam, suggesting that intertribal fusions may play an important role in the genetic differentiation of these populations.

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“…Although several studies have described electrophoretic and chromatographic differences in the ceruloplasmin of patients with Wilson's disease (4)(5)(6), the finding of several normal polymorphisms of this protein makes the significance of these differences unclear (7,8 plantation. These specimens were quick frozen and stored for periods ranging from days to years at -70'C.…”

Section: Introductionmentioning

confidence: 99%

Molecular studies of ceruloplasmin deficiency in Wilson's disease.

et al. 1987

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Deficiency of serum ceruloplasmin is a characteristic biochemical abnormality of Wilson's disease, although the mechanism of this finding is unknown. Ceruloplasmin messenger RNA (mRNA) levels were therefore examined in five patients with Wilson's disease and five controls with other types of hepatic disease. Northern and dot blot hybridizations showed that detectable ceruloplasmin mRNA was present in all of the patients with Wilson's disease, including one patient with no detectable serum ceruloplasmin. However, the ceruloplasmin mRNA levels in the Wilson's disease patients were only 33% that of controls (P < 0.001). In contrast, albumin mRNA levels in the Wilson's disease patients averaged 161% that of controls. In an attempt to better delineate the level of gene expression responsible for this decrease in ceruloplasmin mRNA, the nuclear run-on assay was used to analyze transcriptional rates. The amount of ceruloplasmin gene transcription in four Wilson's patients was decreased to 44% that of three controls. These results indicate that the diminished serum ceruloplasmin levels in patients with Wilson's disease are due at least in part to a decrease in ceruloplasmin gene transcription.

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Identification of Several Electrophoretic Variants of Human Ceruloplasmin Including Cp<sup>Michigan</sup>, a New Polymorphism

Cited by 8 publications

References 7 publications

Frequency and distribution of rare electrophoretic mobility variants in a population of human newborns in Ann Arbor, Michigan

Frequency and distribution of rare electrophoretic mobility variants in a population of human newborns in Ann Arbor, Michigan

Genetic variation within a linguistic group: Apalai‐Wayana and other Carib tribes

Molecular studies of ceruloplasmin deficiency in Wilson's disease.

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