Table 2.
Summary of molecular genetic analysis
| Family | Individual Identification | Exon Fragment | Nucleotide Changea | Codon Changeb | Detection Method |
|---|---|---|---|---|---|
| TOR12 | II:3 | EX15 | PKD1: 6795C→A | Y2265X | Direct sequencing |
| III:2, III:3 | EX15 | PKD1: 6795C→A | Y2265X | Direct sequencing | |
| I:2, II:2 | EX15 | Normal sequence | NA | Direct sequencing | |
| TOR 130 | II:1 | EX11 | PKD2: 2159ins1bp | Frameshift 720→724X | Direct sequencing |
| II:2 | EX11 | Normal | Direct sequencing | ||
| TOR 163 | II:2 | EX11 | PKD1: 2216A→G c,d | Q739R | Direct sequencing |
| EX23 | PKD1: 8289del3bpc | del2763M; reading frame maintained | |||
| III:3 | EX11 | Normal | Direct sequencing | ||
| EX23 | Normal | ||||
| TOR 165 | II:3 | EX1 | PKD2: 567G→A | W189X | Direct sequencing |
| III:1 | EX1 | Normal | Direct sequencing | ||
| TOR 166 | II:3 | EX15 | PKD1: 6062C→T c,e | L2021P | Direct sequencing |
| III:1 | EX15 | PKD1: 6062C→T | L2021P | Direct sequencing |
a
Nucleotide numbering starts with the first in-frame ATG codon of the mRNA sequence of PKD1 or PKD2.
b
Codon numbering starts with the first in-frame methionine of polycystin 1 or 2.
c
Gene variant of uncertain significance.
d
Predicted to be benign by PolyPhen.
e
Predicted to be possibly damaging by PolyPhen.