Table 3 Investigation of polymorphism in the duplicated regions
From: Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Location | Polymorphism analysed | Type SNP/STR | |
|---|---|---|---|
Intron 5 | CA5 (G00-437-244) (Genome data base) | STR OH: (0.600)# | Size of PCR fragment, copy 1/copy 2: P2 (de novo): 176/176 P2 Mother: 176/180 (heterozygous) P3: 182/182 P6: 180/180 P7: 182/182 P8: 182/182 |
Exon 10 | Rs2227291 (NCBI), c.2299 G > C | SNP OH: 0.599 (NCBI) | Nuclotide at position c.2299: P9: G/G P10 (de novo):G/G; P10 Mother: G/G (homozygous) P19 (de novo): G/G; P19 Mother: G/G (homozygous) P11: G/G P17: G/G P18: G/G P13, P14, P15, P16, and P20: All C/C |
Intron 13 | c.2782-29C > A (IVS13-29C > A) | SNP OH: Unknown | Nucleotide at position c.2782-29: P9: C/C P10 (de novo):C/C; P10 Mother: C/C (homozygous) P19 (de novo); P19 Mother: C/C (homozygous) P20: C/C P4, P11 and P15: All A/A |