21 Result(s)
within
R. Butler
Human Genetics
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Article
Exploiting the architecture and the features of the microsporidian genomes to investigate diversity and impact of these parasites on ecosystems
Fungal species play extremely important roles in ecosystems. Clustered at the base of the fungal kingdom are Microsporidia, a group of obligate intracellular eukaryotes infecting multiple animal lineages. Beca...
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Article
CIITA promoter I CARD-deficient mice express functional MHC class II genes in myeloid and lymphoid compartments
Three distinct promoters control the master regulator of major histocompatibility complex (MHC) class II expression, class II transactivator (CIITA), in a cell type-specific manner. Promoter I (pI) CIITA, expr...
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Article
Map** of the gene encoding the B56β subunit of protein phosphatase 2A (PPP2R5B) to a 0.5-Mb region of chromosome 11q13 and its exclusion as a candidate gene for multiple endocrine neoplasia type 1 (MEN1)
The multiple endocrine neoplasia type 1 (MEN1) locus has been previously localised to 11q13 by combined tumour deletion map** and recombination studies, and a 0.5-Mb region, flanked by PYGM and D11S449, has...
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Chapter and Conference Paper
Monoclonal Antibodies Specific for Ag c/g and Ag al/d Polymorphism of Human Low Density Lipoprotein
Human low density lipoprotein (LDL) is the major cholesterol carrier in the blood stream. It occurs as spherical particles and contains one large protein molecule, apolipoprotein B (apo B).
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Chapter and Conference Paper
A new variant of galactose-1-phosphate-uridyltransferase (Gt Oron)
The enzyme galactose-1-P-uridyltransferase (Gt), which exhibits a genetic polymorphism, has an important function in the galactose metabolism. Its clinical importance is due to the fact, that the different gen...
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Chapter and Conference Paper
Genetic Polymorphism of Plasminogen in the Swiss Population
Serum or EDTA-plasma came from blodd donors, laboratory personnel and people engaged in cases of disputed paternity.
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Article
A new rare phenotype of glycine-rich β-glycoprotein
A rare phenotype of serum glycine-rich β-glycoprotein was found in a healthy Swiss woman. The rare gene product was also observed in three of her four sons.
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Article
A new genetic variant of galactose-1-phosphate uridyl transferase
The enzyme galactose-1-phosphate uridyl transferase (E.C. 2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically...
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Article
Contribution to the genetics of serum β-lipoproteins in man
Allelism of the genes Agh and Agi and their close linkage to the Agx/y, $$Ag^{{{a_1 } \mathord{\left/ {\vphantom {{a_1 } d}} \right. ...
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Article
Contribution on the genetics of serum β-lipoprotein in man
Allelism of the genes Ag t and Ag z and their close linkage to the Ag x/y, Ag a1 /d and Ag c/g loci is now confirmed from the study of the segregation ratios in 28 families.
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Article
Contribution to the genetics of serum β-lipoprotein in man
The study of 493 serum samples from Berne typed with respect to the Ag(t) and Ag(z) factors confirmed that the Ag tand Ag zgenes are co-dominant alleles. Furthermore, from the study of 238 of these sera typed als...
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Article
Contribution to the genetics of serum β-lipoprotein in man
The study of some families of the double black cross type confirmed complete linkage of theAg x/y ,
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Article
The phosphoglucomutase (PGM1)-groups in the Swiss population
The distribution of the phosphoglucomutase(PGM1)-groups was studied on blood samples obtained from 2638 Swiss adults. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. T...
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Article
The adnylate kinase (AK)-groups in the Swiss population
The distribution of the adenylate kinase groups was studied on blood samples obtained from 2270 Swiss individuals. The distribution was found to be in excellent agreement with the Hardy-Weinberg equilibrium. T...
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Article
Polymorphism of the red cell acid phosphatase in the Swiss population
The distribution of the red cell acid phosphatase groups was studied on 1365 blood samples of Swiss individuals. The distribution is in agreement with the Hardy-Weinberg equilibrium. Gene frequencies similar t...
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Article
Contribution to the genetics of serum β-lipoproteins in man
The study of 249 serum samples from blood donors of Berne, previously typed with respect to the Ag(x,y,a1,d,c,g) factors has given preliminary evidence that the genes Ag a 1 and Ag d, and Ag c and Ag g respective...
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Article
Lack of association and linkage between β-thalassemia and some serum protein systems (Gm, Inv, Hp, Gc, and Ag)
No evidence of association or linkage between β-thalassemia and the Gm, Inv, Hp, Gc, and Ag serum protein systems was found in the study of 90 Italian thalassemic families.
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Article
Contribution to the genetics of the serum β-lipoproteins in man
A study on the possible existence of association and linkage of the Ag(x,y,a1) system with ABO, MNSs, Pp, Rhesus, Kell, Duffy, Gm, Inv, Hp, and Gc groups is presented. No evidence of association and linkage was f...
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Article
Contribution to the genetics of serum β-lipoproteins in man
The genetic behaviour of a human serum β-lipoprotein factor, called Ag(a1), was studied by agar micro-diffusion technique, utilizing an antibody detected in the serum from a transfused thalassemia patient. It beh...
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Article
Contribution to the genetics of the serum β-lipoproteins in man
A study was made of the genetic behaviour of the factors Ag(x) and Ag(y) of the β-lipoproteins of human serum. It was found that these factors are controlled by a single pair of autosomal codominant genes with...
