Table 1.

MLPA probes used to determine CFH-CFHR copy number

Probe No.Probe NameHybridization Sequence (20 Nucleotides Adjacent to Ligation Site)
1CFH exon 1TGCTACACAA-ATAGCCCATA
2CFH exon 2GGTCTGACCA-AACATATCCA
3CFH exon 3TCCTTTTGGT-ACTTTTACCC
4CFH exon 4ATTACCGTGA-ATGTGACACA
5CFH exon 6AAAGAGGAGA-TGCTGTATGC
6CFH intron 10TAGGTAGTCA-TATTTGGAAC
7CFH intron 12TGGACACATT-ATGATTGAGT
8CFH exon 13AGTTGGACCT-AATTCCGTTC
9CFH exon 18GGAACCATTA-ATTCATCCAG
10CFH exon 19AGGATGTGTA-TAAGGCGGGG
11CFH intron 20GAATTCTATT-TACACTTCCG
12CFH intron 21TAATAGGGTA-TATTATTTTC
13CFH intron 22GAAAAATCTC-TGTGATGAGT
14aCFH exon 23AGCTTTATTC-GAGAACAGGT
15aCFH intron 23TCAATACATA-AATGCACCAA
16aCFH intron 23CACTTATACA-TGCAATCCGT
17aCFH intron 23AGTCCGAGGT-AGAAAGGGAC
18aCFH intron 23GTGGTAATCT-TGGCTCTCAG
19aCFHR3 intron 1AGGTAAGTTA-AAAGAGATCT
20aCFHR3 intron 1CATTTTCTTG-TGGAATTACAGC
21aCFHR3 intron 3CGGACGACAG-TCTCAGACTT
22aCFHR3 intron 4GGGTTATATG-AATTCCTACA
23aCFHR3 exon 6TCCCTTCCCG-ACACACTGCTTG
24aCFHR1 intron 3AGAGTTTCAG-GTCCATGTGT
25aCFHR1 intron 5AATCTGTGAT-TATTTTGTTA
26CFHR1 exon 6CCTGTTCTCA-AATAAAGCTTCT
27CFHR1 exon 6TTTTCCAAGT-TTTAATATGG
28CFHR2 intron 1TGTCTGTACT-TGGAGTTTCG
29CFHR2 intron 2AGATCATAAA-CACTTGATAA
30CFHR2 intron 3AATACCTGTG-TGTGGTTTATAG
31CFHR2 exon 4ATATGCTCCAGG-TTCATCAGTT
32CFHR5 exon 1TGGGTATCCA-CTGTTGGGGG
33CFHR5 exon 2TGAAGAAGAT-TATAACCCTT
34CFHR5 exon 3CTTCAGGACT-AATACATCTG
  • Probes 10–14 were designed within our laboratory. The remaining probes are from the MRC Holland kit (SALSA MLPA P236-A3 ARMD Kit).

  • a Probes spanning the duplication.