The aim of the project is to analyze SNPs in CYP21 gene sequence to obtain the frequency of each nucleotide variation in affected and in normal alleles (from obligate heterozygous individuals) in classic forms of the 21-hydroxylase deficiency. The data to be generated here will be deposited in the SNP database of National Center for Biotechnology Information. After that, the data will be joined to mutation data to compose haplotypes. The frequency of each haplotype will be evaluated to define an eventual founder effect for one particular mutation and a correlation genotype-phenotype will be strengthened.
News published in Agência FAPESP Newsletter about the scholarship: