Table 4

Results of the PCR-RFLP and PCR-SSP analyses

ND gene polymorphism/mutation	Restriction enzymes	Size of PCR product/ND gene	Size after cutting	PCR-RFLP results (n=162)
ND gene polymorphism/mutation	Restriction enzymes	Size of PCR product/ND gene	Size after cutting	Genotype	Type 1 ROP (n=26)	Type 2 ROP (n=57)	Control (n=79)
C597A	HaeIII		CC: 12, 68, 104, 113 bp	CC	26	57	79
			CA: 12, 68, 104, 113, 172 bp	CA	0	0	0
		297 bp	AA: 12, 113, 172 bp	AA	0	0	0
L108P	HaeIII	LL: 12, 68, 104, 113 bp	LL	26	57	79
			LP: 12, 30, 63, 83, 104, 113 bp	LP	0	0	0
			PP: 12, 30, 68, 83, 104 bp	PP	0	0	0
R121W	MspI		RR: 58, 72, 169 bp	RR	26	57	79
			RW: 58, 72, 130, 169 bp	RW	0	0	0
			WW: 130, 169 bp	WW	0	0	0
A105T	MboII		AA: 297 bp	AA	26	57	79
			AT: 103, 194, 297 bp	AT	0	0	0
			TT: 103, 194 bp	LL	0	0	0
V60E	Not all optimisations for primers on PCR-SSP can be performed.
C110G

ND, Norrie disease; PCR-RFLP, PCR-restriction fragment length polymorphism; PCR-SSP, PCR-single specific primer; ROP, retinopathy of prematurity; bp, base pair.