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The Future of Forensic DNA Testing

The Future of Forensic DNA Testing

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Published by: DOJ on Jan 22, 2008
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07/01/2013

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These regions of DNA are a subset of the STRs, described above. Pentanucleotide repeats
are characterized by repeating units five bases long. They were isolated and developed
because they offer a sharper amplification product with fewer ”stutter bands“ than other
classes of STR loci. In particular, STR loci with two, three, or four base repeats generate
the identifying band, which is the designated allele, plus one or more fragments one
repeat unit larger or smaller (or both) than the designated allele. These bands, often
called stutter bands, are less prevalent with systems containing larger repeat units, and
the identification of loci containing five base repeats can often nearly eliminate stutter
bands. It is anticipated that improvements in methodology may also reduce or eliminate
stutter in the CORE 13 loci, making them still more effective.

The products generated by STR loci containing four base repeats are sufficient for general
forensic use. However, the improved purity of pentanucleotide amplification products
leads to less ambiguity in analysis, especially with DNA mixtures such as those that com-
monly occur in rape cases and with mixed blood stains. With the pentanucleotide systems,
there is less opportunity to confuse a stutter band with the contribution of a second
source of DNA.

Pentanucleotide repeat loci are present in the human genome in much smaller numbers
than loci containing smaller repeat units. However, several highly discriminating loci with
14 to 24 alleles each have been identified and characterized to date.

The advantages of pentanucleotides are:

1. In general, these have the same advantages as other STRs. In addition:

2. Cleaner amplification with fewer artifacts allows simpler and more precise
interpretation of results because of a lower percentage of stutter band artifacts.

3. Some pentanucleotide loci display a high degree of heterozygosity without a
significant number of microvariants.

4. Longer repeat length and a paucity of microvariants provides more flexibility in
separation technique by allowing interpretation following less extensive separation
of amplified products.

The Future of Forensic DNATesting: Predictions of the Research and Development Working Group

43

5. Preliminary population studies indicate that some pentanucleotide repeats may
offer increased ability to determine the racial origin of a DNA sample.

The limitations are:

1. In general, the disadvantages are the same as those of other STRs.

2. These are rare in the genome, compared to shorter repeats.

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