Abstract:
BACKGROUND:The identification of human mitochondrial DNA (mtDNA) sequence variations, especially single nucleotide polymorphisms (SNPs), is important for many applications. The PCR-ligase detection reaction (LDR) method can reduce false-positives and eliminate the need for both post-PCR and post-ligation purifications in SNP analyses. In addition, it has been successfully employed to detect point mutations in various nuclear genes. In this study, we used the PCR-LDR platform to characterize mtDNA SNPs. METHODS:Multiplex PCR-LDRs were used to genotype 19 mtDNA single nucleotide polymorphic sites from 812 samples. Performance of the method was assessed by direct sequencing of 44 samples. RESULTS:We established an overall 97.4% success rate with 99.2% accuracy using the multiplex PCR-LDR methodology. CONCLUSIONS:The PCR-LDR mtDNA genotyping technique is simple, highly accurate, has high-throughput, and is cost-effective. Therefore, this method is applicable to mtDNA haplotyping in various applications.
journal_name
Clin Chem Lab Medjournal_title
Clinical chemistry and laboratory medicineauthors
Luo Y,Tang S,Gao W,Chen L,Yang X,Huang T,Gao Ydoi
10.1515/CCLM.2010.097subject
Has Abstractpub_date
2010-04-01 00:00:00pages
475-83issue
4eissn
1434-6621issn
1437-4331journal_volume
48pub_type
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