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

Bruce Budowle, Xavier G. Aranda, Robert E. Lagace, Lori K. Hennessy, John V. Planz, Manuel Rodriguez, Arthur J. Eisenberg

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Null alleles can occur with any PCR-based STR typing system. They generally are due to deletions within the target region or primer binding sites or by primer binding site mutations that destabilize hybridization of at least one of the primers flanking the target region. Although not common, null types were detected at the DYS448 locus in seven out of 1,005 unrelated males in the Hispanic population. Of these DYS448 null types, four individuals displayed an apparent duplication at the DYS437 locus. The additional allele observed at the DYS437 locus is in actuality a smaller-sized DYS448 amplicon, which is the result of a deletion of the invariant N42 base pair domain and downstream repeats within the DYS448 locus. Thus, some DYS448 null types are not truly null. A true DYS448 null allele carried numerous primer binding site variants and a large deletion including the N42 base pair domain and surrounding or downstream repeat regions. The presence of null alleles is not a real concern for interpretation of Y STR loci evidence; current methods for interpreting Y STR profiles easily accommodate such phenomena.

Original languageEnglish
Pages (from-to)421-427
Number of pages7
JournalInternational Journal of Legal Medicine
Issue number5
StatePublished - 1 Sep 2008


  • DYS437
  • DYS448
  • Interpretation
  • Null alleles
  • Repeat motif
  • Sequencing
  • Statistics
  • Y STRs


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