scholarly journals Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.

1991 ◽  
Vol 88 (1) ◽  
pp. 76-81 ◽  
Author(s):  
M Garbarz ◽  
W T Tse ◽  
P G Gallagher ◽  
C Picat ◽  
M C Lecomte ◽  
...  
Keyword(s):  
Splice Site ◽  
Exon Skipping ◽  
Splice Site Mutation ◽  
Molecular Defect ◽  
Beta Chain ◽  
Site Mutation ◽  
Hereditary Elliptocytosis ◽  
Chain Variant

scholarly journals Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis

Blood ◽  
1993 ◽  
Vol 82 (8) ◽  
pp. 2423-2432
Author(s):  
B Lind ◽  
WW van Solinge ◽  
M Schwartz ◽  
S Thorsen
Keyword(s):  
Splice Site ◽  
Protein C ◽  
Family Members ◽  
Exon Skipping ◽  
Splice Site Mutation ◽  
Peripheral Blood Lymphocytes ◽  
Nucleotide Sequencing ◽  
Liver Protein ◽  
Site Mutation ◽  
Protein C Deficiency

Heterozygosity for a G-->C mutation converting the highly conserved Gln184 (CAG) to His (CAC) was identified at the last nucleotide of exon 7 of the protein C gene in two family members with deep vein thrombosis. As the nucleotide is a part of the 5 splice site of intron G, it was examined how the mutation affected splicing of protein C pre- mRNA. Relevant protein C cDNA fragments were amplified with polymerase chain reaction after reverse transcription of ectopic mRNA from peripheral blood lymphocytes. Southern blot analysis and nucleotide sequencing of these fragments showed a fragment (A) corresponding to correctly spliced mRNA originating from the normal allele and a fragment (B) corresponding to a truncated mRNA lacking exon 7, originating from the mutant allele. A third fragment (C) lacking exons 7 and 8 was identified in both affected and unaffected family members, as well as in normal controls. Analysis of human liver protein C mRNA indicated that the ectopic lymphocyte mRNA was qualitatively representative for the tissue-specific mRNA. In conclusion, evidence is provided showing that the mutation abolishes formation of correctly spliced mRNA. This agrees with the observation that the mutation results in a type 1 protein C deficiency.

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

2014 ◽  
Vol 150 (2) ◽  
pp. 143-148 ◽  
Author(s):  
Roger Colobran ◽  
Sergio Lois ◽  
Xavier de la Cruz ◽  
Ricardo Pujol-Borrell ◽  
Manuel Hernández-González ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Angioedema ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Serping1 Gene ◽  
Identification And Characterization

Molecular characterization of a novel splice site mutation within theCYBB gene leading to X-linked chronic granulomatous disease

2005 ◽  
Vol 44 (4) ◽  
pp. 420-422 ◽  
Author(s):  
Cecilia N. Barese ◽  
Silvia B. Copelli ◽  
Elena De Matteo ◽  
Rub�n Zandomeni ◽  
Fabi�n Salgueiro ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Molecular Characterization ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Granulomatous Disease ◽  
Site Mutation
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