Table 1 Haplotype and diplotype distribution observed among concordant and discordant cystic fibrosis F508del homozygous sibling pairs for markers rs152730, rs8044970, rs63982, rs152745, rs152740.

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

 

Freq. among 14 discordant pairs

Freq. among 23 concordant pairs

 

rs152730–rs8044970–rs63982–rs152745–rs152740 haplotype

TTAGA

0.839

0.599

Pcorr = 0.0397

GTCAT

0.051

0.185

GGAAT

0.036

0.129

Other pooleda

0.074

0.087

rs152730–rs8044970–rs63982–rs152745–rs152740 haplotype

TTAGA/TTAGAb

0.714

0.400

Pcorr = 0.049920

TTAGA/GTCAT

0.071

0.201

TTAGA/GGAAT

0.071

0.127

GGAAT/GGAATb

0.000

0.020

GTCAT/GTCATb

0.000

0.059

Other pooled

0.144

0.193

  1. aFour rare haplotypes (Freq. < 0.05) were observed among discordant pairs, 8 rare haplotypes (Freq. < 0.05) were observed among concordant pairs.
  2. bTo identify all genetic variants associated with intrapair discordance on the genomic fragment rs12730–rs152740, the entire 8000 bp genomic fragment was compared by Sanger re-sequencing for three homozygotes for TTAGA, two homozygotes for GGAAT and one homozygote for GTCAT (see Table 2).
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