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Null allele sequence structure at the DYS448 locus and implications for profile interpretation.

Bruce Budowle1, Xavier G Aranda, Robert E Lagace

  • 1Laboratory Division, FBI, Quantico, VA, 22135, USA. bruce.budowle@ic.fbi.gov

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Summary

Null alleles in Y STR typing, though uncommon, can arise from deletions or mutations. Some DYS448 null types are not truly null, presenting as smaller amplicons due to deletions, which current interpretation methods can accommodate.

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Area of Science:

  • Forensic Genetics
  • Population Genetics

Background:

  • Null alleles, resulting from deletions or primer site mutations, can affect PCR-based STR typing.
  • These null alleles can complicate the interpretation of genetic profiles.

Purpose of the Study:

  • To investigate the occurrence and nature of null alleles at the DYS448 locus.
  • To characterize the genetic mechanisms underlying observed null alleles and apparent duplications.

Main Methods:

  • Analysis of Y STR loci, specifically DYS448 and DYS437, in a Hispanic male population sample.
  • Characterization of null alleles through sequencing or other molecular methods to identify deletions and primer binding site mutations.

Main Results:

  • Null types were detected at the DYS448 locus in 7 out of 1,005 unrelated Hispanic males.
  • Four of these individuals showed an apparent DYS437 duplication, identified as a smaller DYS448 amplicon resulting from a deletion.
  • True DYS448 null alleles involved extensive primer binding site variants and large deletions.

Conclusions:

  • Some DYS448 null alleles are not truly null but represent deletions within the locus.
  • The presence of null alleles, including those at DYS448, does not pose a significant challenge for current Y STR interpretation methods.
  • Geneticists can effectively interpret Y STR profiles despite the occurrence of null alleles.