A Cohesin Subunit Variant Identified from a Peripheral Sclerocornea Pedigree

Figure 3

(a) C1348T of RAD21 displayed complete cosegregation with peripheral sclerocornea, suggesting a strong association of C1348T RAD21 with peripheral sclerocornea. Genotypes at 1348 position of RAD21 are shown under individuals. (b) Sanger sequencing spectra of RAD21 alleles in affected and unaffected members. In the locus, the affected sample (II-2) showed two sequencing peaks, indicating both signals of dC and dT. The unaffected sample (II-4) showed only one peak of dC. (c) RAD21 genotype of both genome DNA (gDNA) and transcripts (cDNA). The affected members carried both wild-type and variant RAD21 alleles in their genome DNA and transcripts.

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