BACKGROUND. Recent studies using ROMA and Array-CGH suggest that germline copy number polymorphisms (CNPs) involving >100 kb are common in humans. METHODS. In this study, we used the Affymetrix GeneChip 100K single nucleotide polymorphisms (SNP) mapping panel to further examine the type and frequency of germline CNPs in the genome. By utilizing the allele intensity data generated while genotyping ∼116,000 SNPs among 23 subjects from 4 families, we were able to detect multiple CNPs. RESULTS. However, in contrast to several previous studies, we found that CNPs >100 kb are rare in the genome but CNPs involving 100s-1,000s of base pairs are more common. CONCLUSIONS. We have demonstrated the utility of this approach, which has an important advantage over other methods because it is able to simultaneously assess both CNPs and SNPs, and therefore has great potential in genetic association studies of common diseases.
- DNA copy number polymorphisms (CNPs)
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