Figure 1.
Organization of RCCX module and Copy Number Variations at chromosome 6p21.
Black horizontal arrows denote gene orientation. A. Specific primers used for the amplification of CYP21A2 next to TNXB. B. Specific primers used for the amplification of CYP21A2 next to TNXA. Primer binding sites for each primer are indicated by grey horizontal arrows.
Table 1.
CYP21A2 genetic variations found in a random sample of 144 Spaniards.
Figure 2.
Electropherograms obtained for the three novel mutations in CYP21A2 gene and the corresponding wild-type alleles.
1. The base change from G to T at position 69 leads to the substitution of tryptophan 22 by cysteine; 2. The base change from G to A at position 553 replaces aspartic acid 184 by asparagine; 3. The base change from C to A at positition 1996 leads to the substitution of threonine 443 by asparagine. (GenBank Ref. ID NM_000500.5; UniProtKB ID P08686). Wt: wild-type; Mut: mutated.