Identification of polymorphisms in the human SHP1 gene.

Abstract excerpt

Because mutations in human SHP1 underlie obesity and diabetes, SHP1 is a candidate gene for human lipodystrophy syndromes. To identify possible disease mutations and/or common single-nucleotide polymorphisms (SNPs), we developed primer pairs to amplify the promoter and coding region of SHP1. We used these pairs to sequence SHP1 in lipodystrophy patients who had no mutations in known lipodystrophy genes, and also...

Topics

• Gene Frequency
• Humans
• Lipodystrophy
• Mutation
• Polymorphism, Single Nucleotide
• Receptors, Cytoplasmic and Nuclear