APOLIPOPROTEIN B(ARG3500-]GLN) ALLELE SPECIFIC POLYMERASE CHAIN-REACTION - LARGE-SCALE SCREENING OF POOLED BLOOD-SAMPLES

作者：RUZICKA V; MARZ W; RUSS A; GROSS W

来源：The Journal of Lipid Research, 1992, 33(10): 1563-1567.

• FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100
• HYPERCHOLESTEROLEMIA
• ALLELE SPECIFIC POLYMERASE CHAIN REACTION
• AMPLIFICATION REFRACTORY MUTATION SYSTEM

A two-step polymerase chain reaction (PCR) method for the rapid detection of the apolipoprotein B(Arg3500-->Gln) mutation in a mixture of pooled blood samples is described. In the first step PCR, a short gene fragment surrounding codon 3500 is amplified. Subsequently the reaction product is subjected to a second amplification in which a mutation-specific primer is used. A PCR product is generated only if the mutant sequence is present in the DNA pool. Individuals carrying the mutation can then be identified by PCR with mutagenic primers and MspI restriction typing, essentially as described by Hansen et al. (J. Lipid Res. 1991. 32: 1229-1233).

• 出版日期1992-10