Table 1.

Primers for PCR and sequencing

Deletion	PCR primers	Fragment size*	Annealing temperature	Sequencing primers
Promoter – exon1	F: gtccgaggaaggtcacagaa R: cagcacacaaatgaggtggt	3.5 kb	60	R: cagcacacaaatgaggtggt
Exon5	F: gtggtctcggccatccatcc R: tctgcaagccgcctgcaccg	1.3 kb	72**	R: tctgcaagccgcctgcaccg
Exon7 – 8	F: tcctccttcctctctctggc R: gctgcaggcaggggcgacgc	3 kb	63	R: aaagccaggcacggtggctc
Exon9 – 14	F: ggctacaagtgccagtgtga R: agctgacctttagcctgacg	2 kb	59	F: tttttgagacagagtctca R: aaagtccaaaatcaggcc
Exon 13 – 15	F: tctccttatccacttgtgtgtctag R: gctttggtcttctctgtctttgaat	8 kb	58	F: tagccaggtgtggtggcagg R: ctgggagtagctaggactgc

F: forward primer, R: reverse primer

* Fragment size for PCR fragment of the mutant allele

** Two-step PCR, 72°C 1:30 min; 98°C 10sec