The insulin minisatellite has been associated with predisposition to type 1 diabetes, type 2 diabetes, polycystic ovarian syndrome, obesity, and infant birth size (OMIM 125852).
We analysed variant repeat distribution in 876 alleles of the insulin minisatellite from the parents of 219 families of type 1 diabetes affected sib pair families, and defined 189 different alleles within this cohort.
In addition, de novo mutant alleles generated both in the germline and soma were isolated by size-enrichment small pool PCR, and their structures characterised.
The sequences of variant repeats, and nomenclature of allele and mutants codes, is described here:
Intoduction to MVR-PCR at the insulin minisatellite
To view all results from either the allele diversity or de novo mutation detection studies , select the option below:
Allele diversity study
To download all files in pdf format, select the option below:
pdf formatted files
If you refer to this data in any publication, please cite:
Allele diversity and germline mutation at the insulin minisatellite. Stead, J.D.H. and Jeffreys, A.J. Hum. Mol. Genet., 9, 713-723 (2000).