Transgenic studies disease link

The second type of promoter polymorphism is a VNTR in the second intron composed of 17-bp repeats (Ogilvie et al., 1996). Ten and twelve sets of repeats are most common (Lesch et al., 1994). Studies with embryonic stem cells and transgenic embryos implicate the VNTR as playing a role in the regulation of transcription, although no definitive links are known between this VNTR and disease states (Torres et al., 2003a). 

---