Table 2 Variants observed on contrasting haplotypes identified after Sanger re-sequencing of the 8000 bp genomic fragment defined by rs152730–rs152740 associated with intrapair discordance.

From: Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B

Haplotype at rs152730–rs8044970–rs63982–rs152745–rs152740

Associated with intrapair disease manifestation

rs152730a

rs62029384

rs8044970a

rs8044984

rs80443907

rs152731

rs152732

rs180878

rs152733

TTAGA

Discordant

T

C

T

T

C

T

C

T

T

GGAAT

Concordant

G

T

G

G

T

C

C

T

T

GTCAT

Concordant

G

C

T

T

C

C

T

G

C

Different between TTAGA and GGAAT as well as GTCAT?

 

Yes

No

No

No

No

Yes

No

No

No

Haplotype at rs152730–rs8044970–rs63982–rs152745–rs152740

Associated with intrapair disease manifestation

rs63982a

rs152745a

rs8062922

rs152744

rs62029385

rs152743

rs152741

rs57406669

rs152740a

TTAGA

Discordant

A

G

C

A

C

G

C

C

A

GGAAT

Concordant

A

A

T

G

T

G

T

G

T

GTCAT

Concordant

C

A

C

G

C

A

T

C

T

Different between TTAGA and GGAAT as well as GTCAT?

 

No

Yes

No

Yes

No

No

Yes

No

Yes

  1. ars152730–rs8044970–rs63982–rs152745–rs152740 were used to map the fragment associated with intrapair discordance and define the contrasting haplotypes TTAGA (associated with intrapair discordance) and GGAAT as well as GTCAT (both associated with intrapair concordance); see Table 1.
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