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. Author manuscript; available in PMC: 2017 Aug 30.
Published in final edited form as: Clin Chem. 2011 Dec 7;58(2):421–430. doi: 10.1373/clinchem.2011.174037

Fig. 2. Junction site analysis of attenuated chimeric CYP21A1P/CYP21A2 by DNA sequencing.

Fig. 2

(A), Junction site of CH-4 is between c.138 and c.292+45 (highlighted in light blue). Probands 1 and 2 demonstrated a CYP21A1P-like sequence in exon 1 (homozygous for c.92, c.118, and c.138) and a CYP21A2-like sequence at the beginning of intron 2 (homozygous for c.292+45). Participants 1F, 2M, and proband 6 are heterozygous for 3 sites at exon 1, showing that they are carriers of the uncommon attenuated chimeric gene. Proband 7 and her sister (patient 7S) are heterozygous for both exon 1 sites and c.292+45, indicating that they carry a distinct chimeric allele with a junction site downstream of c.292+45. (B), Junction site of CH-9 is between c.293−74 and c.293−67 (highlighted in light green). CH-9 and CYP21A2 alleles, which share a CYP21A2-like sequence from c.293−67, were distinguished with TA cloning and sequencing for proband 7. 21A2, functional gene CYP21A2; 21A1P, pseudogene CYP21A1P.