Exon Sequencing within Runs of Homozygosity in Patients with Schizophrenia

Mentors: Nick Sanchez, Kim Chambert, Colm O'Dushlaine, & Jon Madison

Studies of schizophrenia in families suggest that this disease has a strong genetic basis. Richard sequenced DNA samples from schizophrenic patients for variations called Single Nucleotide Polymorphisms (SNPs) and compared them to those of unaffected individuals. Richard amplified, purified, and sequenced all of the coding regions of two genes (NRGN and FEZ1) in 8 schizophrenic patients, in order to identify rare variations that have an association with schizophrenia.

Richard detected a total of 7 SNPS in the DNA of the schizophrenic patients -- 6 in FEZ1 and 1 in NRGN. The SNP in NRGN was a novel SNP not previously reported. At one of the FEZ1 SNPs, the rare allele was found at a high frequency in schizophrenic samples. Therefore Richard was successful in identifying a rare variation that had a striking association with schizophrenia. His results also validate a novel strategy for detecting rare variations through targeted sequencing that is informed by previous genome-wide association study data.

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Richard, a senior at Newton South High School, sought to identify mutations in genes associated with schizophrenia in certain families.