A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction.
The allele-specific PCR approach has been modified by introducing a second mismatch at the 3'-penultimate link of the primer and used to identify the sickle cell anemia mutation (A-->T transversion in the sixth codon of the human beta-globin gene causing Glu-->Val substitution in the protein), thus obviating the problem of an interpretationally ambiguous 3'-terminal mismatch including T residue.
Birikh
K R
KR
M.M. Shemyakin Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow.
Plutalov
O V
OV
Schwartz
E I
EI
Devi
P S
PS
Berlin
Y A
YA
D000483:Alleles; D000595:Amino Acid Sequence; D000755:Anemia, Sickle Cell / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D015342:DNA Probes; D005069:Evaluation Studies as Topic; D005914:Globins / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*
D015342:DNA Probes; D005914:Globins; D004247:DNA