Figure 3
From: New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
The area of frequent mutations/polymorphisms in the PKD1 gene. a. Sequencing pattern of the exon 40 (forward) in proband HD2 with heterozygous deletion of 6 bases in-frame c.11340_11345delTTACGA (p.Y3781_D3782del) of the PKD1 gene. b. Sequencing pattern of the exon 40 (forward) in proband HD12 with heterozygous duplication of 8 bases c.11345dupGATTACGA (p.D3782EfsX46) of the PKD1 gene. c. Sequencing pattern of the exon 40 (forward) in proband 57 with silent nucleotide change c.11346 C>T (p.A3782A) of the PKD1 gene.