Table 3.
Haplotypes for monomodular alleles defined on basis of C4 and CYP21A1P/A2 chimeric gene
| Haplotypes | I | II | III | IV | V | VI | VII | VIII | IX | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients | 2 | 1 | 5 | 6 | 7 | 4 | 8 | 3 | 10 | 15 | 16 | 9 | 11 | 12 | 13 | 14 | 17 | 18 | 19 | 20 | ||
| C4 | Sb1 | 6.4 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | 7 | |
| MLPA2 | B/A | A/B | A/B | A/B | A/B | A | A | A | A | A | A | A | A | A | A | A | A | A | A | A | ||
| CYP21A1P/A2 | 5' | RB3 | 6/8 | 6/8 | 6/8 | 6/8 | 6/8 | 3'end | 3'end | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 3/4 | 1/3 | 1/3 | 1/3 |
| -4494 | A | A | A | A | A | A | - | A | A | A | A | A | A | - | G | G | G | A | A | A | ||
| -3085 | C | C | C | C | C | C | - | G | G | G | G | C | C | - | C | C | C | C | C | C | ||
| -2896 | C | T | T | T | T | T | - | T | T | T | T | T | T | - | T | T | T | T | T | T | ||
| -47 | T | C | C | C | C | T | T | C | C | C | C | T | T | T | T | T | T | T | T | T | ||
| E1 | p.P30L8 | T | T | T | T | T | T | T | C | C | C | C | - | T | T | T | - | T | T | T | T | |
| p.P34L9 | C | C | C | C | C | C | C | T | T | T | T | - | C | C | C | - | C | C | C | C | ||
| p.H62L10 | A | A | A | A | A | A | A | T | T | T | T | - | A | A | A | A | A | A | A | A | ||
| I2 | 39511 | T | C | C | C | C | T | T | C | C | C | C | C | C | C | T | T | T | C | C | C | |
| 41912 | - | - | - | - | - | C | C | C | C | C | C | C | C | C | C | C | C | C | C | A | ||
| 54713 | - | - | A | - | - | A | A | A | A | - | A | A | A | A | A | - | A | A | A | C | ||
| 560_566insG14 | - | 6Gs | 6Gs | - | 6Gs | 6Gs | 6Gs | 6Gs | 6Gs | - | 6Gs | 6Gs | 6Gs | 6Gs | 6Gs | - | 6Gs | 6Gs | 6Gs | 7Gs | ||
| 60215 | A | A | A | A | A | A | A | A | A | - | A | A | A | A | A | - | A | C | C | C | ||
| E4 | p.I172N | A | A | A | A | A | A | A | T | T | T | T | T | T | T | T | T | T | T | T | T | |
| I5 | 125316 | A | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | G | - | - | - | |
| E7 | p.S268T17 | G | C | C | C | C | C | G | G | G | G | G | G | G | G | G | G | G | G | G | G | |
| p.V281L18 | T | T | T | T | T | T | T | G | G | G | G | G | G | G | G | G | G | G | G | G | ||
| E8 | p.Q318X19 | C | C | C | C | C | T | T | C | C | C | C | C | C | C | C | C | C | C | C | C | |
| p.R356W20 | C | C | C | C | C | C | T | C | C | C | C | C | C | C | C | C | C | C | C | C | ||
Numbers are relative to ATG initiation codon in the genomic DNA based on CYP21A2 sequence described by Higashi et al. (1986); mutation caused by nucleotide changes; E, exon; I, intron. 1Sb, size (kb) of C4 Taq I restriction fragments obtained in Southern blots. 2Composition of the C4 gene copy in monomodular alleles indicated by MLPA assays - A, corresponds to C4A and B, to C4B genes. 3RB recombination breakpoint in CYP21A1P/A2 chimeric gene indicated by MLPA and ASO-PCR experiments; 6/8, between exons 6 an 8; 3/4, between exons 3 an 4; 1/3, between exons 1 an 3. CYP21A1P /CYP21A2 consensus nucleotides for polymorphic positions (number at NCBI-SNP database), most frequent nucleotide for each SNP is indicated first: 4A > G (rs28361032)/A (non-polymorphic); 5C (non-polymorphic)/C > G (rs3130676); 6T (non-polymorphic)/T (non-polymorphic); 7T > C (rs6470)/C > T (rs6470); 8T > C (rs9378251)/C > T (rs9378251); 9C (non-polymorphic)/C (non-polymorphic); 10A > T (rs9378252)/A > T (rs9378252); 11C > T (rs28361033)/T > C > G (rs6462); 12A (non-polymorphic)/A > C (rs6448); 13A(non-polymorphic)/C (non-polymorphic); 146Gs (non-polymorphic)/7Gs > 6Gs (not registered); 15A(non-polymorphic)/C > A > G (rs6451); 16G > A (rs28691121)/G (non-polymorphic); 17G (non-polymorphic)/G > C (rs6472); 18T > G (rs41315836)/G > T (rs6471); 19T > C (rs7755898)/C > T (rs7755898); 20T > C (rs7755898)/C > T (rs7769409).