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. Author manuscript; available in PMC: 2015 Aug 12.
Published in final edited form as: Br J Haematol. 2012 Apr 2;158(1):146–149. doi: 10.1111/j.1365-2141.2012.09110.x

Fig 1.

Fig 1

WAVE chromatograms, restriction enzyme digests and haplotype study of G6PC3 mutant-positive kindreds. (A) WAVE chromatograms of exon 1 and exon 5 polymerase chain reaction (PCR) products from mutation-positive patients mixed with known wild-type (WT) PCR products. (B) (i) PCR products of Patient 1, his affected sister and parents carrying the c.190_210del mutation. (ii) TaqI digestion confirming the c.623T>G mutation in Patient 2 and her parents. (iii) DdeI digestion of PCR products confirming the c.130C>T mutation in Patients 3 and 4. Parental results (lanes 3 and 4) were the same for both patients. (C) Microsatellite and SNP analysis of the G6PC3 locus in kindreds 3 and 4 with the c.130C>T mutation. The shared haplotype flanked by markers D17S951 and D17S1827 is highlighted.