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. 2000 Aug;53(4):188–193. doi: 10.1136/mp.53.4.188

Figure 2.

Figure 2

Molecular biological detection of of c-kit Asp 816 to Val point mutation. (A) Adenine/thymidine substitution at nucleotide (nt) 7176 of c-kit DNA (nt 2468 of c-kit mRNA) causing asparagine/valine substitution at residue 816 of the c-kit protein and creating a new restriction site for endonuclease HinfI. Note the pre-existing HinfI site at nt 7187. G!ANTC, HinfI recognition site; !, cutting position of the restriction endonuclease HinfI. (B) Electrographs obtained by direct sequencing of semi-nested PCR products. Sites of the point mutation are indicated by arrows. Note that the reverse PCR primer has been used for DyeTerminator cycle sequencing: complementary sequences are indicated on top of each electrograph; 3′ end, left; 5′ end, right. Nucleotide positions are indicated on top. The upper panel corresponds to fig 3 ▶, lane 2: a single peak indicates the mutated allele. The middle panel corresponds to fig 3 ▶, lane 3: a double peak indicates the heterozygous genotype. The lower panel corresponds to fig 3 ▶, lane 4: a single peak indicates the wild-type allele. Mut; mutation; loh, loss of heterozygosity; wt, wild-type.