Fig. 1 | Genetics in Medicine

Fig. 1

From: A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations

Fig. 1

A, DNA sequence traces from unaffected and affected individuals. The nucleotides at position c.30 + 5_6 are boxed. B, Pedigrees of two Ashkenazi Jewish families in this study. Genders are obscured to protect patient confidentiality. Clear diamonds indicate unaffected, dark diamonds indicate clinically affected, and speckled diamonds indicate uncertain disease status. Probands are indicated with arrows. The genotypes at c.30 + 5_6 and the exon 2 SNP (rs2107732) are noted. C, The CCM2 AJ affected SNP haplotype is shown with the rare alleles shown in bold.

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