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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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Published on: January 16, 2019

STR sequence analysis for characterizing normal, variant, and null alleles.

Margaret C Kline1, Carolyn R Hill, Amy E Decker

  • 1National Institute of Standards and Technology, 100 Bureau Drive, M/S 8312, Gaithersburg, MD 20899, USA. margaret.kline@nist.gov

Forensic Science International. Genetics
|October 12, 2010
PubMed
Summary
This summary is machine-generated.

DNA sequence variation in short tandem repeat (STR) loci can affect human identity testing. NIST sequenced 111 variant and 17 null alleles to improve forensic DNA analysis accuracy.

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Area of Science:

  • Forensic Science
  • Genetics
  • Molecular Biology

Background:

  • Short tandem repeat (STR) loci are crucial for human identity testing.
  • Sequence variations in STR regions and primer binding sites can lead to inaccurate typing or allele dropout.
  • Variant and null alleles have been identified in forensic DNA analysis.

Purpose of the Study:

  • To sequence and characterize variant and null alleles from short tandem repeat (STR) loci.
  • To catalog sequence information for these variant and null alleles on the NIST STRBase website.
  • To provide detailed PCR primer sequences and strategies used in STR allele sequencing.

Main Methods:

  • Sequencing of variant and null alleles supplied by forensic laboratories.
  • Utilizing specific PCR primer sequences and a defined strategy for sequencing 23 autosomal STRs and 17 Y-chromosome STRs.
  • Cataloging sequence data for identified variant and null alleles.

Main Results:

  • Characterization of 111 variant alleles and 17 null alleles across various STR loci.
  • Detailed description of PCR primer sequences and the sequencing strategy employed.
  • Compilation of sequence variation data for forensic applications.

Conclusions:

  • Understanding DNA sequence variation in STR loci is essential for accurate human identity testing.
  • The characterized variant and null alleles provide valuable data for forensic laboratories.
  • NIST's ongoing efforts to catalog STR allele information enhance the reliability of forensic DNA analysis.