Patent ID: 6979542

Claim:
A method for identifying a genetic signature for heterozygous carriers of autosomal recessive disorders, said carriers not expressing a phenotype associated with said disorder, comprising the steps of: a) obtaining a nucleic acid sample from cells of heterozygous carriers and normal individuals; b) generating detectably labeled probes from said nucleic acid samples; c) contacting cDNA microarrays with said detectably labeled probes under conditions that facilitate hybridization between complementary nucleic acids, if any are present; d) analyzing said cDNA microarrays for cDNA hybrids, if any are present; and e) comparing hybridization profiles from said heterozygous carrier and normal nucleic acid samples, thereby generating a genetic signature which corresponds to said autosomal recessive disorder, said genetic signature comprising those particular nucleic acid sequences which are differentially expressed between said heterozygous carriers and normal individuals.