The HumARA trinucleotide repeat

Notwithstanding the fact that HumARA is one of the best-established forensic STR markers (Desmarais et al., 1998), our group has recently announced that we no longer consider HumARA to be a suitable DNA marker in forensic casework (Szibor et al., 2005a). From the very beginning of HumARA testing it has been known that, in contrast to all other forensic DNA markers, the HumARA CAG repeat is located in a coding region (androgen receptor gene, exon 1). This means that the repeat codes for a polyglutamine tract (La Spada et al., 1991) proved that X-linked spinal and bulbar muscular atrophy (SBMA) is attributable to a mutation at this locus. This disease occurs at trinucleotide repeat lengths longer than 43. Apart from the SBMA disease, HumARA typing can detect a number of further health risks, e.g. increased risk of impaired spermatogenesis (Tut et al., 1997), prostate cancer (Giovannucci et al., 1997) and many more.

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