Non-amplification of an Allele of D8S1179 Locus Due to Point Mutation in Flanking Region.

Korean J Leg Med. 2000 May;24(1):33-42. Korean.

Department of Legal Medicine, College of Medicine, Korea University, Korea.

AmpFlSTR Profiler PlusTM PCR amplification system is highly efficient commercial DNA profiling system that are used by many institute for forensic individual identification. During the population study of 128 true Korean families (626 persons) with 9 loci of AmpFlSTR Profiler PlusTM PCR amplification system, we found unusual homozygous genotype at the D8S1179 locus in 4 families that is hard to explain with the Mendel's hereditary principles. The genotyping results suggest possibility of presence of non-amplified alleles due to deletion of one allele or polymorphism of primer-binding site. So we designed a new pair of primers of D8S1179 locus from GenBank data (GenBank Accession No. G08710). The newly designed primers amplified alleles that are not amplified with AmpFlSTR Profiler PlusTM PCR amplification system and all homozygous genotypes are typed to heterozygous genotype. We sequenced alleles of family members who have non-amplified alleles and we found G to A transition at the position of 147th base of GenBank sequence.

Key words: D8S1179 STR mutation