Info

+TATCi278 (Exon 11)

Blue peak, size =

96 bp

Blue peak, size = Yellow peak, size =

96 bp 100 bp

739C>T (R247W) (Exon 7)

Blue peak, size =

128 bp

Blue peak, size = Yellow peak, size =

128 bp 126 bp

745C>T (R249W) (Exon 7)

Blue peak, size =

138 bp

Blue peak, size = Yellow peak, size =

138 bp 138 bp

1421+1G>C (Intron 12)

Blue peak, size =

160 bp

Blue peak, size = Yellow peak, size =

160 bp 160 bp

805G>A (G269S) (Exon 7)

Blue peak, size =

197 bp

Blue peak, size = Yellow peak, size =

197 bp 197 bp

a Results for normal and mutant alleles are distinguished by peak color differences for all mutations, and by peak color and peak size differences in the case of the +TATC1278 mutation and the 745C>T (R249W) pseudodeficiency allele. The size differences are due to a 4 bp insertion in the case of the +TATC1278 mutation, and differences in lengths of the normal and mutant primers in the case of the 745C>T (R257W) allele.

a Results for normal and mutant alleles are distinguished by peak color differences for all mutations, and by peak color and peak size differences in the case of the +TATC1278 mutation and the 745C>T (R249W) pseudodeficiency allele. The size differences are due to a 4 bp insertion in the case of the +TATC1278 mutation, and differences in lengths of the normal and mutant primers in the case of the 745C>T (R257W) allele.

Fig. 2. Results of the Tay Sachs ASA assay for a normal sample (no mutations). Note that there are 5 blue peaks seen, which correspond to the normal allele at each of the mutation sites in the HEXA gene. The sizes of the peaks are as given, and are also listed in Table 3. (See color plate 3 appearing in the insert following p. 82)

Fig. 2. Results of the Tay Sachs ASA assay for a normal sample (no mutations). Note that there are 5 blue peaks seen, which correspond to the normal allele at each of the mutation sites in the HEXA gene. The sizes of the peaks are as given, and are also listed in Table 3. (See color plate 3 appearing in the insert following p. 82)

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