Flanking Region의 점돌연변이로 발생한 D8S1179 유전좌의 대립유전자의 결손

초록

AmpFISTRR 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 AmpFISTRR 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 AmpFISTRR 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.

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