INFERTILITY ASSOCIATED DEFB-126 DELETION POLYMORPHISM

摘要

The present application provides diagnostic methods for determining the fertility status of a male individual by evaluating his DEFB-126 phenotypic and genotypic status. The present invention relates to a dinucleotide deletion polymorphism in the protein coding sequence of a DEFB-126 nucleic acid. The amino acid sequence of this variant has a significantly altered the carboxyl terminal, carbohydrate-containing domain of DEFB-126 in comparison to a wild-type DEFB-126 polypeptide. This variant results in aberrant protein function and structure, leading to reduced sperm function and fertility. The present invention provides methods for analyzing the genotype of individuals with respect to the gene encoding DEFB-126 in order to determine whether that individual has reduced fertility. Such determination will provide an individual knowledge of whether their genotype is associated with a risk of reduced fertility and to allow that individual to receive appropriate fertility treatment options. The present invention further provides kits that are useful for diagnosing increased risk or probability of infertility based on the presence or absence of the DEFB-126 deletion polymorphism. The application also provides therapeutic methods and compositions for restoring sperm functionality (e.g., to effect conception) in sperm from an individual who expresses insufficient levels of DEFB-126.