PMC4862320_01
Family Pedigree of the Patient
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His parents were first cousins with no family history of PKU (Figure 1).
A, gel electrophoresis of PCR products of exon 2 and 3; 1, absence of exon 3 in patient, 2 and 3, presence of exon 3 in the father and mother. B, gel electrophoresis of PCR products using primers for introns 2 and 3; 1, 1120 base pair band due to deletion in patient; 2, absence of the band in normal control; 3 and 4, presence of the band in heterozygous father and mother.
ircmj-18-02-21633-g001.jpg
PMC4862320_01_ircmj-18-02-21633-g001.jpg
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In our patient, a 1120 bps segment was amplified (Figure 2) that demonstrated a large deletion of 4765 bps (g.21560-26324del4765) containing exon 3, and results were confirmed by Sanger sequencing (Figure 3) too.
Sequencing Result of 1120 bps Product in Patient Show Deletion of Large Segment Containing Exon 3. The Deletion Occurred Within Alu Repeat Segment.
ircmj-18-02-21633-i002.jpg
PMC4862320_01_ircmj-18-02-21633-i002.jpg
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In our patient, a 1120 bps segment was amplified (Figure 2) that demonstrated a large deletion of 4765 bps (g.21560-26324del4765) containing exon 3, and results were confirmed by Sanger sequencing (Figure 3) too.