. Author manuscript; available in PMC: 2014 Jun 2.

Published in final edited form as: Ophthalmology. 2010 Apr 24;117(8):1538–1546.e1. doi: 10.1016/j.ophtha.2009.12.038

Table 3. Haplotype Analysis of Pedigrees OA-8, OA-9 and OA-10.

Location	OA-8, II-1	OA-8, III-1	OA-8, III-2	OA-9, II-1	OA-IO, II-1	OA-IO, II-2	Haplotype
Exon 4	c.473A>G				c.473A>G
Intron 4	c.557-19t>c	c.557-19t>c	c.557-19t>c	c.557-19t>c	c.557-19t>c	c.557-19t>c	c.557-19t>c
Intron 8	c.870+32t>c	c.870+32t>c	c.870+32t>c	c.870+32t>c	c.870+32t>c	c.870+32t>c	c.870+32t>c
Intron 18	c.1770+16t>g	c.1770+16t>g	c.1770+16t>g	c.1770+16t>g	c.1770+16t>g	c.1770+16t>g	c.1770+16t>g
Intron 18	c.1770+51t>g	c.1770+51t>g	c.1770+51t>g	c.1770+51t>g	c.1770+51t>g	c.1770+51t>g	c.1770+51t>g
Exon 21	c.2109C>T				c.2109C>T	c.2109C>T
Intron 26	c.2707+25t>a	c.2707+25t>a	c.2707+25t>a	c.2707+25t>a	c.2707+25t>a	c.2707+25t>a	c.2707+25t>a
Exon 27	c.2713C>T

Homozygous OPA1 SNPs are highlighted in blue and OPA1 mutations are highlighted in red.