Table 1.
Amplification and sequencing primers of NLRP7 and KHDC3L genes
| Sequence of the primers (5’→3’) used for the mutation analysis of KHDC3L | ||
|---|---|---|
| Exon | 5’ Primer (Forward) | 3’ Primer (Reverse) |
| 1 | GTTCCTCCTACCGGGTGCG | CGATCCTCACCAGTAGCCAAT |
| 2 | GGCTTCTTTCTGCCACCCATA | TCTCCGGTGGAGGTGCAG |
| 3 | GCTGGGAATAGGGCTACCTG | GTGGCGAGGAAGGATGATGT |
| Sequence of the primers (5’→3’) used for the mutation analysis of NLRP7 | ||
| Exon | 5’ Primer (Forward) | 3’ Primer (Reverse) |
| 1 | UTR – not amplified | UTR – not amplified |
| 2 | TCTTGGCACACAGGAAACTG | TGTAAGGCTGGAGTGCAGTG |
| 3 | CATGCCTGGCTGACACTTTA | TCTGCTCATTGCAACCTCTG |
| 4 - part 1 | CTCAAGTGATCCACCCACCT | AGGAAGATGTTACCCAGGGC |
| 4 - part 2 | GGCCTTGATGAGCTGAAAGT | CCTCAGCTTCCAGCAGTTTC |
| 4 - part 3 | CTGTTCCTGGACGGAGACAT | TGTCAGAATTTCCCTCTGGC |
| 5 | TTGTGGTTTTTGCCATTGAA | AGGAAGACCCTGAACGATGA |
| 6 | CCCGGCCAAGAACTTCTAAT | GTAACCACTCCAGATGCCGT |
| 7 | AGGCTGCAGTGAGGTGAGAT | AACACCTGACTTACTGCGCC |
| 8 | GATGAACAGGAAGGGCTGAA | GCACATGAATTCAAGCAGGA |
| 9 | GCAAGCCCACCTGGAAGTAT | AGTGTTTGGAAATCTGGAAATCC |
| 10 | CTCCCGAAGTGTTGGGATTA | ACCTCTGCCTCTCAGGTTCA |
| 11 | GGCATCCTGGGTAGTTGAGA | TTTTTGGGAGATTCTGCACG |
Figure 1.
Sequence chromatogram of homozygous NLRP7: c.2471+1G>A (rs104895505) pathogenic variation.
Figure 2.
Sequence chromatogram of homozygous NLRP7: c.2571dupC, p.Ile858HisfsTer11 (rs766731093) pathogenic variation.