Table 6.

DNA mutation analysis of c-KIT

PN
Exon 2
Exon 8
cDNA sequence corresponding to exon 9
Exon 10
Exon 11
Exon 12
Exon 17
1   ND   ND   ND   ND   ND   ND   ND  
2   WT   WT   ND   Polymorphism1   WT   WT   WT  
3   WT   WT   ND   WT   WT   WT   WT  
4   WT   WT   Del 12 bp*  WT   WT   WT   WT  
5   WT   WT   ND   WT   WT   WT   WT  
6   ND   WT   ND   Polymorphism1   WT   WT   WT  
7   ND   WT   ND   WT   WT   WT   WT  
8   WT   WT   ND   Polymorphism2   WT   WT   WT  
9   WT   WT   Del 12 bp*  WT   WT   WT   WT  
10   ND   WT   Del 12 bp*  Polymorphism1   WT   WT   WT  
11   ND   WT   ND   WT   WT   WT   Polymorphism3  
12   WT   WT   ND   WT   WT   WT   WT  
13   ND   ND   ND   WT   WT   WT   WT  
14   ND   WT   ND   Polymorphism1   WT   WT   WT  
15   WT†  WT†  Del 12 bp*  WT   WT†  WT†  WT  
16   ND   ND   ND   ND   ND   ND   ND  
17   WT   WT   ND   WT   WT   WT   WT  
18   ND   ND   ND   ND   ND   ND   ND  
19   ND   ND   ND   ND   ND   ND   ND  
20   ND   WT†  Del 12 bp*  WT*  WT†  WT†  ND  
21
 		 ND
 		 WT†
 		 Del 12 bp*
 		 ND
 		 ND
 		 ND
 		 ND
 
PN
Exon 2
Exon 8
cDNA sequence corresponding to exon 9
Exon 10
Exon 11
Exon 12
Exon 17
1   ND   ND   ND   ND   ND   ND   ND  
2   WT   WT   ND   Polymorphism1   WT   WT   WT  
3   WT   WT   ND   WT   WT   WT   WT  
4   WT   WT   Del 12 bp*  WT   WT   WT   WT  
5   WT   WT   ND   WT   WT   WT   WT  
6   ND   WT   ND   Polymorphism1   WT   WT   WT  
7   ND   WT   ND   WT   WT   WT   WT  
8   WT   WT   ND   Polymorphism2   WT   WT   WT  
9   WT   WT   Del 12 bp*  WT   WT   WT   WT  
10   ND   WT   Del 12 bp*  Polymorphism1   WT   WT   WT  
11   ND   WT   ND   WT   WT   WT   Polymorphism3  
12   WT   WT   ND   WT   WT   WT   WT  
13   ND   ND   ND   WT   WT   WT   WT  
14   ND   WT   ND   Polymorphism1   WT   WT   WT  
15   WT†  WT†  Del 12 bp*  WT   WT†  WT†  WT  
16   ND   ND   ND   ND   ND   ND   ND  
17   WT   WT   ND   WT   WT   WT   WT  
18   ND   ND   ND   ND   ND   ND   ND  
19   ND   ND   ND   ND   ND   ND   ND  
20   ND   WT†  Del 12 bp*  WT*  WT†  WT†  ND  
21
 		 ND
 		 WT†
 		 Del 12 bp*
 		 ND
 		 ND
 		 ND
 		 ND
 

Additionally, the following c-KIT exons were determined as WT by cDNA-sequencing: PN 4, exons 4, 5, 6, 7, 8, 14, 15, and 16; PN 9, exons 6, 7, 10, 11, 12, 13, and 14; PN 10, exons 4, 5, 6, 7, 8, 10, 11, 12, 14, 15, and 16; PN 15, exons 3, 4, 5, 6, 7, 10, 13, 14, 15, and 16; PN 16, exons 14 and 15; PN 19, exons 14, 15, and 16; PN 20, exons 4, 5, 6, 7, 13, 14, 15, and 16; PN 21, exons 4, 5, 6, 7, 14, 15, and 16.

ND, indicates not determined; WT, wild type, Polymorphism1 , ATG↔CTG54 ; Polymorphism2 , AAA↔AAG, Polymorphism3 , ATC↔ATT.

*

Deletion of a 12-bp segment encoding amino acids 510 to 513 (GNNK), representing an isoform of c-kit.56 

†

Determined by cDNA-sequencing.

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