scholarly journals A three codon insertion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (APOB) gene directly typed by the polymerase chain reaction

1989 ◽  
Vol 17 (10) ◽  
pp. 4003-4003 ◽  
Author(s):  
Eric Boerwinkle ◽  
Lawrence Chan
Keyword(s):  
Polymerase Chain Reaction ◽  
Signal Peptide ◽  
Apolipoprotein B ◽  
Deletion Polymorphism ◽  
Chain Reaction ◽  
Apob Gene ◽  
Human Apolipoprotein ◽  
Signal Peptide Region ◽  
Polymerase Chain ◽  
Peptide Region

Using mutagenic polymerase chain reaction primers to detect carriers of familial defective apolipoprotein B-100

1991 ◽  
Vol 37 (10) ◽  
pp. 1762-1766 ◽  
Author(s):  
C Motti ◽  
H Funke ◽  
S Rust ◽  
A Dergunov ◽  
G Assmann
Keyword(s):  
Polymerase Chain Reaction ◽  
Amino Acid ◽  
Apolipoprotein B ◽  
Plasma Cholesterol ◽  
Genetic Defect ◽  
Chain Reaction ◽  
Genetic Trait ◽  
Apo B ◽  
Polymerase Chain ◽  
Polymerase Chain Reaction Primers

Abstract Familial defective apolipoprotein (apo) B-100 is a genetic trait characterized by an Arg----Gln substitution in position 3500 of the apo B sequence. This genetic defect is associated with greatly increased concentrations of plasma cholesterol and may thus increase the risk of developing premature atherosclerotic disease. We describe here the use of mutagenic polymerase chain reaction primers, which greatly facilitate identification of carriers of this mutation. Moreover, we demonstrate that this method may also be used for determining the phase between two polymorphic sites. Using apo B-100 as an example we located on different chromosomes the defect in codon 3500 and a mutation in codon 3611, which produces another Arg----Gln change in the encoded apo B-100 amino acid sequence, in two probands heterozygous for both mutations.

The Uses of Computer-Aided Signal Peptide Selection and Polymerase Chain Reaction in Gene Construction and Expression of Secreted Proteins

1990 ◽  
Vol 9 (6) ◽  
pp. 453-459 ◽  
Author(s):  
BRUCE L. DAUGHERTY ◽  
SUSAN M. ZAVODNY ◽  
ALBERT B. LENNY ◽  
MARLENE A. JACOBSON ◽  
RONALD W. ELLIS ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Signal Peptide ◽  
Secreted Proteins ◽  
Chain Reaction ◽  
Computer Aided ◽  
Polymerase Chain
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