DIAGNOSIS OF UNIPARENTAL DISOMY WITH THE AID OF SINGLE NUCLEOTIDE POLYMORPHISMS

摘要

The invention relates to a method for the diagnosis of uniparental disomy (UPD) in a human being by means of the analysis of inheritance of informative single nucleotide polymorphisms (SNPs) and the utilization of an SNP present in a biological sample of a human being for the diagnosis of UPD.