Indels Insertiondeletion Polymorphisms

Another form of a bi-allelic (or di-allelic) polymorphism is an insertion-deletion or indel. An indel can be the insertion or deletion of a segment of DNA ranging from one nucleotide to hundreds of nucleotides (such as is seen with an Alu insertion). The two alleles for di-allelic indels can simply be classified as 'short' and 'long'. From a certain perspective, STR markers can be thought of as multi-allelic indels since the different alleles are typically insertions or deletions of a tandem repeat unit.

Most di-allelic indels exhibit allele-length differences of only a few nucleotides. James Weber and colleagues at the Marshfield Medical Research Foundation recently characterized over 2000 bi-allelic indels in the human genome (Weber et al. 2002). A total of 71% of these indels possessed 2-, 3-, or 4-nucleotide length differences with only 4% having greater than a 16-nucleotide length difference. Allele frequencies for the short and long alleles have been measured in African, European, Japanese, and Native American populations (Weber et al. 2002). These markers can be easily typed and may prove useful for future genetic studies including human identity testing.

POINTS FOR DISCUSSION

1. Why are SNPs being considered for use in human identity testing?

2. What are the advantages and disadvantages of SNPs compared to currently used STR markers?

3. Will SNPs replace STRs as a primary means of forensic DNA testing? Why or why not?

4. Are there ethical challenges with using SNPs to predict ethnicity and physical traits? If so, what are they and how should the law enforcement community use this type of information in the future?

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