Abstract:
:A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) will provide quality control when mtDNA is sequenced for forensic identifications, medical diagnosis, or mutation detection. SRM 2392 includes DNA from two lymphoblast cell cultures (CHR and 9947A) and cloned DNA from the CHR HV1 region, which contains a C stretch and is difficult to sequence. The mtDNA sequence (but not the DNA) of a third human template GM03798 is provided for comparison. Fifty-eight unique primer sets allow any area or the entire mtDNA (16,569 bp) to be amplified and sequenced. While none of the differences in these three templates correspond to published mutations associated with specific diseases, some of these differences did result in animo acid changes compared with that published by S. Anderson et al. (1981, Nature 290: 457-465). An interlaboratory evaluation of the amplification, sequencing, and data analysis of the CHR template was conducted by four laboratories. Corroboration of the SRM results will provide quality assurance that any unknown mtDNA is also being amplified and sequenced correctly.
journal_name
Genomicsjournal_title
Genomicsauthors
Levin BC,Cheng H,Reeder DJdoi
10.1006/geno.1998.5513subject
Has Abstractpub_date
1999-01-15 00:00:00pages
135-46issue
2eissn
0888-7543issn
1089-8646pii
S0888-7543(98)95513-6journal_volume
55pub_type
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