Highlights
- •The real criminal from monozygotic twins was “unluckily” identified through the traditional STR test by the accidental emerge of a tri-allelic pattern.
- •STR as personal genetic marker could mutate pass generations.
- •Loop containing false priming induced STR repeat length variation occurs in cell mitosis, which is after embryonic zygote formation and during the early development of the individual after the division of the blastocyte.
- •The genotypes of parent–child mismatches, aberrant di-allelic patterns, and type 1 or 2 tri-allelic patterns should be considered as independent, but interconnected forms of STR mutation.
Abstract
Monozygotic twins can be co-identified by genotyping of short tandem repeats (STRs);
however, for distinguishing them, STR genotyping is ineffective, especially in the
case of murder. Here, a rarely occurring tri-allelic pattern in the vWA locus (16,
18, 19) was identified only in the DNA of one identical twin, which could help to
exonerate the innocent twin in a murder charge. This mutation was defined as primary
through genotyping of the family and could be detected in blood, buccal and semen
samples from the individual; however, two alternative allele-balanced di-allelic patterns
(16, 18 or 16, 19) were detected in hair root sheath cells. Such a kind of segregation
indicates a one-step mutation occurs in cell mitosis, which is after embryonic zygote
formation and during the early development of the individual after the division of
the blastocyte. Sequencing revealed the insertion between the allele 18 and 19 is
a repeat unit of TAGA/TCTA (plus/minus strand), which belongs to “AGAT/ATCT”-based
core repeats identified from all tri-allelic pattern reports recorded in the STR base
and a detailed model was proposed for STR repeat length variation caused by false
priming during DNA synthesis. Our model illustrates the possible origination of allele-balanced
and unbalanced tri-allelic pattern, clarifies that the genotypes of parent–child mismatches,
aberrant di-allelic patterns, and type 1 or 2 tri-allelic patterns should be considered
as independent, but interconnected forms of STR mutation.
Keywords
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Article info
Publication history
Published online: February 11, 2015
Accepted:
January 29,
2015
Received in revised form:
January 13,
2015
Received:
October 8,
2014
Identification
Copyright
© 2015 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
