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Table 3 Haplotypes for monomodular alleles defined on basis of C4 and CYP21A1P/A2 chimeric gene

From: Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency

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
  1. 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).