Genomic Diversity of BK Polyomavirus in East of England – Preliminary Data

The total mitochondrial DNA (mtDNA) genome in cases of Turner and Down syndrome were analyzed to identify key mutation sites. Blood samples were collected from deceased individuals with Down and Turner syndrome. Long range PCR amplicons spanning the entire human mitochondrial genome (16,569 bp) were prepared for sequencing with Nextera XT preparation. Library sequencing on the MiSeq (Illumina) was followed by data analysis with the mtDNA variant analyzer. The analytical procedures were carried out following instructions for the “Human mtDNA Genome” with the Illumina Sequencing Platform. The mtDNA sequences in these samples were found to be unique and specific when compared with a reference sequence (rCRS), and the mtDNA for both Down syndrome and Turner syndrome appear to share at least twelve mutation sites. However, eight of these sites were commonly found in Japanese individuals, the other four being considered rare.Our data indicate that specific mutations occur in chromosomal aberrations, and the possible interaction of the sex chromosomes and mtDNA is also suggested. We hypothesize that specific mtDNA mutations could cause the abnormal cell to fertilize and reproduce itself.