Table 2

MLPA probes used to determine CFHR1 and CFHR3 copy number

Probe noGene, exonLigation sitePartial sequence (20 nt adjacent to ligation site)
1 CFH, exon 1 151-152 TGCTACACAA-ATAGCCCATA 
2 CFH, exon 2 226-227 GGTCTGACCA-AACATATCCA 
3 CFH, exon 3 389-390 TCCTTTTGGT-ACTTTTACCC 
4 CFH, exon 4 490-491 ATTACCGTGA-ATGTGACACA 
5 CFH, exon 6 850-851 AAAGAGGAGA-TGCTGTATGC 
6 CFH, exon 9 1310-1311 AATCAAAATC-ATGGAAGAAA 
7 CFH, exon 11 Intron 10, 5429 nt before exon 11 TAGGTAGTCA-TATTTGGAAC 
8 CFH, exon 12 Intron 12, 1079 nt after exon 12 TGGACACATT-ATGATTGAGT 
9 CFH, exon 13 1925-1926 AGTTGGACCT-AATTCCGTTC 
10 CFH, exon 15 Intron 15, 863 nt after exon 15 AGCTGAGTGA-CATGAGGTAG 
11 CFH, exon 18 2751-2752 GGAACCATTA-ATTCATCCAG 
12 CFH, exon 20 3206-3207 TCTGCTATTA-ATGCATGTTA 
13 CFH, exon 22 Intron 22 ACTCATCACA-GAGATTTTTC 
14 CFH, exon 23 3680-3681 ACCTGTTCTC-GAATAAAGCT 
15 CFH, exon 23 Intron 23, 5 nt after exon 23 TCAATACATA-AATGCACCAA 
16 CFH, exon 23 Intron 23, 286 nt after exon 23 CACTTATACA-TGCAATCCGT 
17 CFH, exon 23 Intron 23, 8775 nt after exon 23 AGTCCGAGGT-AGAAAGGGAC 
18 CFH, exon 23 Intron 23, 21 283 nt after exon 23 and 1354 nt before CFHR3 exon 1 GTGGTAATCT-TGGCTCTCAG 
19 CFHR3, exon 1 Intron 1 AGGTAAGTTA-AAAGAGATCT 
20 CFHR3, exon 2 Intron 1 CATTTTCTTG-TGGAATTACA 
21 CFHR3, exon 3 Intron 3 CGGACGACAG-TCTCAGACTT 
22 CFHR3, exon 4 Intron 4 GGGTTATATG-AATTCCTACA 
23 CFHR3, exon 6 Intron 5 TTCCCCAACA-TCACAGCAGA 
24 CFHR3, exon 6 1003-1002 reverse TCCCTTCCCG-ACACACTGCT 
25 CFHR1, exon 1 Intron 1 GGATAATTCA-ATTGAAATGG 
26 CFHR1, exon 3 Intron 3 AGAGTTTCAG-GTCCATGTGT 
27 CFHR1, exon 5 Intron 5 AATCTGTGAT-TATTTTGTTA 
28 CFHR1, exon 6 945-946 CCTGTTCTCA-AATAAAAGCTT 
29 CFHR1, exon 6 1246-1247 TTTTCCAAGT-TTTAATATGG 
30 CFHR2, exon 1 Intron 1 AACTATGTCT-TGGAGTTTCG 
31 CFHR2, exon 2 Intron 2 AGATCATAAA-CACTTGATAA 
32 CFHR2, exon 3 Intron 3 AATACCTGTG-TGTGGTTTAT 
33 CFHR2, exon 4 589-590 ATGCTCCAGG-TTCATCAGTT 
34 CFHR5, exon 1 136-137 TGGGTATCCA-CTGTTGGGGG 
35 CFHR5, exon 2 207-208 TGAAGAAGAT-TATAACCCTT 
36 CFHR5, exon 3 398-399 CTTCAGGACT-AATACATCTG 
Probe noGene, exonLigation sitePartial sequence (20 nt adjacent to ligation site)
1 CFH, exon 1 151-152 TGCTACACAA-ATAGCCCATA 
2 CFH, exon 2 226-227 GGTCTGACCA-AACATATCCA 
3 CFH, exon 3 389-390 TCCTTTTGGT-ACTTTTACCC 
4 CFH, exon 4 490-491 ATTACCGTGA-ATGTGACACA 
5 CFH, exon 6 850-851 AAAGAGGAGA-TGCTGTATGC 
6 CFH, exon 9 1310-1311 AATCAAAATC-ATGGAAGAAA 
7 CFH, exon 11 Intron 10, 5429 nt before exon 11 TAGGTAGTCA-TATTTGGAAC 
8 CFH, exon 12 Intron 12, 1079 nt after exon 12 TGGACACATT-ATGATTGAGT 
9 CFH, exon 13 1925-1926 AGTTGGACCT-AATTCCGTTC 
10 CFH, exon 15 Intron 15, 863 nt after exon 15 AGCTGAGTGA-CATGAGGTAG 
11 CFH, exon 18 2751-2752 GGAACCATTA-ATTCATCCAG 
12 CFH, exon 20 3206-3207 TCTGCTATTA-ATGCATGTTA 
13 CFH, exon 22 Intron 22 ACTCATCACA-GAGATTTTTC 
14 CFH, exon 23 3680-3681 ACCTGTTCTC-GAATAAAGCT 
15 CFH, exon 23 Intron 23, 5 nt after exon 23 TCAATACATA-AATGCACCAA 
16 CFH, exon 23 Intron 23, 286 nt after exon 23 CACTTATACA-TGCAATCCGT 
17 CFH, exon 23 Intron 23, 8775 nt after exon 23 AGTCCGAGGT-AGAAAGGGAC 
18 CFH, exon 23 Intron 23, 21 283 nt after exon 23 and 1354 nt before CFHR3 exon 1 GTGGTAATCT-TGGCTCTCAG 
19 CFHR3, exon 1 Intron 1 AGGTAAGTTA-AAAGAGATCT 
20 CFHR3, exon 2 Intron 1 CATTTTCTTG-TGGAATTACA 
21 CFHR3, exon 3 Intron 3 CGGACGACAG-TCTCAGACTT 
22 CFHR3, exon 4 Intron 4 GGGTTATATG-AATTCCTACA 
23 CFHR3, exon 6 Intron 5 TTCCCCAACA-TCACAGCAGA 
24 CFHR3, exon 6 1003-1002 reverse TCCCTTCCCG-ACACACTGCT 
25 CFHR1, exon 1 Intron 1 GGATAATTCA-ATTGAAATGG 
26 CFHR1, exon 3 Intron 3 AGAGTTTCAG-GTCCATGTGT 
27 CFHR1, exon 5 Intron 5 AATCTGTGAT-TATTTTGTTA 
28 CFHR1, exon 6 945-946 CCTGTTCTCA-AATAAAAGCTT 
29 CFHR1, exon 6 1246-1247 TTTTCCAAGT-TTTAATATGG 
30 CFHR2, exon 1 Intron 1 AACTATGTCT-TGGAGTTTCG 
31 CFHR2, exon 2 Intron 2 AGATCATAAA-CACTTGATAA 
32 CFHR2, exon 3 Intron 3 AATACCTGTG-TGTGGTTTAT 
33 CFHR2, exon 4 589-590 ATGCTCCAGG-TTCATCAGTT 
34 CFHR5, exon 1 136-137 TGGGTATCCA-CTGTTGGGGG 
35 CFHR5, exon 2 207-208 TGAAGAAGAT-TATAACCCTT 
36 CFHR5, exon 3 398-399 CTTCAGGACT-AATACATCTG 

Ligation sites refer to positions in Genbank reference sequences NM_000186.2 (CFH), NM_021023.3 (CFHR3), NM_002113.1 (CFHR1), NM_005666.2 (CFHR2), and NM_030787.1 (CFHR5). Probes 12 to 14 were designed in our laboratory. The remaining probes are from an MRC Holland (www.mlpa.com) kit (SALSA MLPA kit P236-A1 ARMD).

View Large