A high frequency polymorphism in the candidate region for tuberous sclerosis 1 (TSC1) at 9q34.

Abstract

The Surfeit locus contains at least six tightly clustered housekeeping genes (Surf‐1 to ‐6) with novel features (Huxley & Fried, 1990). In contrast to the tens to hundreds of kilobases found between most adjacent mammalian genes only a small region separates any two adjacent Surfeit genes. The organization of the Surfeit locus and the juxtaposition of the Surfeit genes is conserved between mouse, human and chicken (600 million years of divergent evolution) (Williams et al. 1988; Yon et al. 1993; Colombo et al. 1992) indicating that the Surfeit locus gene organization may have biological significance. The Surfeit locus has been mapped to human chromosome band 9q34, within the candidate region for Tuberous Sclerosis 1 (TSC1) (Yon et al. 1993). In the process of screening for mutations correlated with TSC1 by single strand conformation polymorphism (SSCP) (Orita et al. 1989) in this genomic region we detected a polymorphism which occurs at a high frequency.