Analysis of exonic and intronic SNPs in CYP21 gene to identify haplotypes linked to 21-hydroxylase deficiency

• Grant number: 05/00211-5
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Effective date (Start): July 01, 2005
• Effective date (End): June 30, 2007
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Maricilda Palandi de Mello
• Grantee: Renan Darin Bernardi
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

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.