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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).
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BMC Medical Genetics

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