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Table 1 MUTYH genotypes in the 26 samples used to set up the HRMA assay

From: High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

AMPLICON

SSCP ANALYSIS

HRMA/SEQUENCING1

N. OF CASES

EXON 1

WT

WT

26

EXON 2

WT

WT

23

 

WT

c.[64G > A]+[=]

1

 

c.[64G > A]+[64G > A]

c.[64G > A]+[64G > A]

2

EXON 3

WT

WT

26

EXON 4

WT

WT

26

EXON 5

WT

WT

26

EXON 6

WT

WT

18

 

c.[504+35G > A]+[=]

c.[504+35G > A]+[=]

7

 

c.[481G > C]+[=]

c.[481G > C]+[=]

1

EXON 7

WT

WT

19

 

c.[536A > G]+[536A > G]

c.[536A > G]+[536A > G]

2

 

c.[536A > G]+[=]

c.[536A > G]+[=]

5

EXON 8

WT

WT

26

EXON 9

WT

WT

26

EXON 10

WT

WT

26

EXON 11

WT

WT

26

EXON 12

WT

WT

16

 

c.[1014G > C]+[=]

c.[1014G > C]+[=]

6

 

WT

c.[1014G > C]+[1014G > C]

1

 

c.[1147delC]+[=]

c.[1147delC]+[=]

1

 

c.[1023_1024insGA]2+[=]

c.[1023_1024insGA]2+[=]

1

 

c.[1163T > C]+[=]

c.[1163T > C]+[=]

1

EXON 13

WT

WT

19

 

c.[1187G > A]+[1187G > A]

c.[1187G > A]+[1187G > A]

1

 

c.[1187G > A]+[=]

c.[1187G > A]+[=]

4

 

c.[1227_1228dupGG]+[1227_1228dupGG]

c.[1227_1228dupGG]+[1227_1228dupGG]

1

 

c.[1187-27C > T(+)1258C > A]3

c.[1187-27C > T(+)1258C > A]3

1

EXON 14

WT

WT

24

 

c.[1437_1439delGGA]+[=]

c.[1437_1439delGGA]+[=]

1

 

c.[1437_1439delGGA]+[1437_1439delGGA]

c.[1437_1439delGGA]+[1437_1439delGGA]

1

EXON 15

WT

WT

26

EXON 16

WT

WT

26

  1. 1In bold genetic variants identified by direct sequencing and HRMA, but not by SSCP.
  2. 2Novel variant identified in this study.
  3. 3These two variants were present in the same sample, but their phase is unknown.
  4. WT = wild-type.