Skip to main content

Table 3 Mutations identified by DHPLC with the predicted and actual temperatures of detection and a summary of which mutations were identified by DGGE

From: A Comparison Between Denaturing Gradient Gel Electrophoresis and Denaturing High Performance Liquid Chromatography in Detecting Mutations in Genes Associated with Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the Identification of 9 New Mutations Previously Unidentified by DGGE

Gene/Exon

Mutation Description

Fragment Size (bp)

Predicted Temperature

Actual Temperature Detected

Detected by DGGE/DHPLC

hMLH1

1

G to A (116) splice site

200

62

60

y/y

1

A to G (1)

200

62

60

y/y

1

A to G (112)

200

62

60

y/y

4

C to T (350)

191

54,59

59

y/y

4

G to A (+1)

191

54,59

54

y/y

6

C to T (+51)

230

56

56

y/y

7

T to G (554)

205

55

58

y/y

8

A to G (655)

149

48,53,55,58

58

y/y

9

A to G (790) splice site

181

56

58

y/y

10

G to A (884)

213

58

58

n/y

13

G to A (+13)

209

59

57,58,59

y/y

13

G to T (1535)

209

59

58,59

y/y

15

G to A (1731) splice site

210

49,54

54

y/y

16

AA to GC (1852-3)

259

55,60

55,60

y/y

17

G to T (1959)

178

59

58,59

y/y

17

G to A (1989) splice site

178

59

57,58,59

y/y

19

A to G (2253)

266

59

56,57

y/y

19

G to A (2147)

266

59

58,59

y/y

hMSH2

1

C of G (+8)

300

60

64/67

y/y

2

G to A (304)

244

53,54

54

n/y

3

C to T (547)

359

48/53/58

58

n/y

3

A to T (488)

359

48/53/58

58

y/y

6

C to T (1009)

240

57

57

y/y

6

G to A (965)

240

57

57

y/y

7

A to T (+2)

326

51/56

51

n/y

7

C to T (+7)

326

51/56

51

n/y

7

C to T (1216)

326

51/56

57

n/y

7

A to T (-2)

326

51/56

51

n/y

9

G to C (-1)

183

55

55

y/y

10

A to G (+12)

249

50,55

50,52,53,55

y/y

10

C to A (1632)

249

50,55

50,52,53

y/y

11

T to C (1669)

198

2

52,53

y/y

11

A to g (1690)

198

55

55

y/y

12

G to C (1968)

319

52,57

56,57

y/y

13

A to G (2157)

284

54,59

54,56

y/y

13

T to C (+6)

284

54,59

54,56

y/y

Deletions

hMLH1

1

1 bp (9)

200

62

62

y/y

3

4 bp (+2, 208-9)

181

55

55

y/y

7

1 bp (588)

205

55

55

y/y

8

1 bp (672)

149

48,53,58

55

y/y

13

5 bp (1460-1464)

209

59

50,54,58,59

y/y

16

3 bp (1846-48)

259

55,60

53

y/y

17

2 bp (1986-1987)

178

59

57,58,59

y/y

19

1 bp (2114)

266

59

56

y/y

hMSH2

1

1 bp (163)

300

60

64,66,67

n/y

7

1 bp (1260)

326

51/56

57

n/y

9

1 bp (1408)

183

55

50,53,55

y/y

15

7 bp (2502-2508)

266

58

50,52,56

y/y

Insertions

hMLH1

12

4 bp (1164)

410

55,60

50,55,60

y/y

Inversions

hMSH2

8

23 bp (1338-1361)

212

53

53,50

y/y