DIRECT EVIDENCE OF MUTATION AT THE LOCUS FOR GALACTOSE-I-PHOSPHATE URIDYL TRANSFERASE

PEDIATRICS ◽  
1970 ◽  
Vol 45 (4) ◽  
pp. 672-676
Author(s):  
William J. Mellman ◽  
Fred H. Allen ◽  
Lester Baker ◽  
Thomas A. Tedesco

An apparent fresh mutation has been identified at the human transferase locus (Gt) that has resulted in an occurrence of the heterozygous state for galactosemia (Gt+/GtG). The individual concerned is the mother of a child with galactosemia, neither of whose parents was found to be heterozygous for galactosemia. Recently discovered human genetic markers and established blood group antigens have been used to test for non-paternity as an alternative explanation to mutation. Paternity was proven in this instance with greater than 98% confidence. This paper illustrates the feasibility of determining biochemically the mutation rates for specific genetic loci and the improved confidence that can be achieved in paternity testing with more recently described human genetic polymorphisms.

2021 ◽  
Vol 16 (2) ◽  
pp. 107-118
Author(s):  
Mayra Cuéllar-Cruz

Viruses have caused the death of millions of people worldwide. Specifically, human viruses are grouped into 21 families, including the family of coronaviruses (CoVs). In December 2019, in Wuhan, China, a new human CoV was identified, SARS-CoV-2. The first step of the infection mechanism of the SARS-CoV-2 in the human host is adhesion, which occurs through the S glycoprotein that is found in diverse human organs. Another way through which SARS-CoV-2 could possibly attach to the host’s cells is by means of the histo-blood group antigens. In this work, we have reviewed the mechanisms by which some viruses bind to the histo-blood group antigens, which could be related to the susceptibility of the individual and are dependent on the histo-blood group.


1984 ◽  
Vol 32 (9) ◽  
pp. 965-972 ◽  
Author(s):  
S A Laden ◽  
B A Schulte ◽  
S S Spicer

Paraffin sections of submandibular, sublingual, minor salivary, and parotid glands from ten human autopsy cases were stained with a battery of ten lectins conjugated to horseradish peroxidase. Variable affinity for one or another lectin between mucous cells in a gland evidenced cellular heterogeneity in mucin production. Mucous cells of a given type of gland varied among individuals, but for a single individual appeared markedly but not completely similar from one type of salivary gland to another. The individual variation related, in part, to the ABO blood group and secretor status of the individual. For mucous cells in secretors of blood group A and B all antigens stained strongly for the presence of terminal alpha-N-acetylgalactosamine or alpha-galactose, respectively. Mucous cells in AB secretors contained both antigens, whereas those of O (H) secretors lacked both. Mucous cells of three presumed nonsecretors, two of whom were immature infants and possibly too young to produce ABO antigen, failed to stain. Mucous cells in glands from the presumed nonsecretors, however, revealed a staining pattern consistent with the presence of Lea antigen. Mucous cells of nonsecretors stained with Lotus tetragonolobus agglutinin but not with Ulex europeus I agglutinin, whereas mucous cells of ABO secretors stained with both lectins. This difference in lectin binding indicated that sites reactive only with Lotus tetragonolobus agglutinin contain 1----4 linked fucosyl residues and sites stained by both lectins contain fucose linked 1----2 to the oligosaccharide. Staining of mucous cells of nonsecretors with Pisum sativum agglutinin indicate that either the lectin binds to internal N-acetylglucosamine of Lea substance or the mucous cells contain an N-glycosidic glycoprotein of the type thought to bind this lectin. Serous cells stained less strongly than mucous cells and differed in lectin affinities from one type of gland to another in an individual. Staining of serous cells of a given gland varied markedly among different subjects. This individual variability did not relate to blood group as terminal sugars demonstrative of A or B blood group antigens were not detected in any serous cells. Serous cells in the submandibular glands from the two immature infants were unreactive with all lectin conjugates. Secretions in parotid and submandibular serous cells generally contained a higher content of fucose than those in sublingual serous cells, which contained higher levels of a terminal galactose-sialic acid dimer. Some but not other cells of striated and interlobular ducts of submandibular glands of one subject stained for alpha-N-acetylgalactosamine.


2020 ◽  
Vol 295 (47) ◽  
pp. 15974-15987 ◽  
Author(s):  
Inga Rimkute ◽  
Konrad Thorsteinsson ◽  
Marcus Henricsson ◽  
Victoria R. Tenge ◽  
Xiaoming Yu ◽  
...  

The molecular mechanisms behind infection and propagation of human restricted pathogens such as human norovirus (HuNoV) have defied interrogation because they were previously unculturable. However, human intestinal enteroids (HIEs) have emerged to offer unique ex vivo models for targeted studies of intestinal biology, including inflammatory and infectious diseases. Carbohydrate-dependent histo-blood group antigens (HBGAs) are known to be critical for clinical infection. To explore whether HBGAs of glycosphingolipids contribute to HuNoV infection, we obtained HIE cultures established from stem cells isolated from jejunal biopsies of six individuals with different ABO, Lewis, and secretor genotypes. We analyzed their glycerolipid and sphingolipid compositions and quantified interaction kinetics and the affinity of HuNoV virus-like particles (VLPs) to lipid vesicles produced from the individual HIE-lipid extracts. All HIEs had a similar lipid and glycerolipid composition. Sphingolipids included HBGA-related type 1 chain glycosphingolipids (GSLs), with HBGA epitopes corresponding to the geno- and phenotypes of the different HIEs. As revealed by single-particle interaction studies of Sydney GII.4 VLPs with glycosphingolipid-containing HIE membranes, both binding kinetics and affinities explain the patterns of susceptibility toward GII.4 infection for individual HIEs. This is the first time norovirus VLPs have been shown to interact specifically with secretor gene–dependent GSLs embedded in lipid membranes of HIEs that propagate GII.4 HuNoV ex vivo, highlighting the potential of HIEs for advanced future studies of intestinal glycobiology and host-pathogen interactions.


1979 ◽  
Vol 254 (6) ◽  
pp. 2112-2119 ◽  
Author(s):  
J.E. Sadler ◽  
J.C. Paulson ◽  
R.L. Hill

1993 ◽  
Vol 22 (1) ◽  
pp. 7-12
Author(s):  
Shinichi Kudo ◽  
Masaaki Onda ◽  
Ann Rearden ◽  
Minoru Fukuda

Transfusion ◽  
1983 ◽  
Vol 23 (1) ◽  
pp. 65-66 ◽  
Author(s):  
V Biro ◽  
G Garratty ◽  
CL Johnson ◽  
WL Marsh

1988 ◽  
Vol 32 (3) ◽  
pp. 130-138 ◽  
Author(s):  
M. Gerenčer ◽  
Z. Singer ◽  
S. Pfeifer ◽  
M. Tomaškovi ◽  
I. Humar ◽  
...  

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