Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Barbaro, Michela; Kotajärvi, Maire; Harper, Pauline; Floderus, Ylva

doi:10.1186/1750-1172-8-13

Orphanet Journal of Rare Diseases

Table 1 PPOX probe mix

From: Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Probe name	Size^a	5^′half hyb sequence^b	3^′half hyb sequence^c	SD	N1	N2	Fam A	Fam E
GABRA4^d	84	CAGCCTGTTGTCATAACCATCG	AGCAAACTGTCCAGGATGCG	0.20	nd	nd	nd	nd
RELN^e	87	CAGCATTACGGAATGAAGGTCA	CCACAAGAAGTGGCTTCACAACC	0.04	1.02	0.99	0.98	0.96
PPOXex1	90	GGGAGTAGCGGATTTGAAGCACTT	GTTGGCCTACAGAGGTGTGGCAAG	0.03	0.94	1.00	1.07	1.01
PPOXex7v3	93	CTGAGCGCTGGAGCCAGTGGTCACTT	CGTGGAGGTCTAGAGATGTTGCCTC	0.04	1.00	0.99	1.03	0.55
PPOXex5v5	96	GCAAAGAGCCTGATGAGACTGTGC	ACAGTTTTGCCCAGCGCCGCCTTGGACCTG	0.03	1.04	1.00	0.57	0.60
PPOXex6	99	GTGTTTGCAGGCAACAGCCGTGAGCTCA	GCATCAGGTCCTGCTTTCCCAGTCTCTTC	0.03	1.02	1.02	0.59	0.58
PPOXex3	102	GCTCCGTTCGAGGCCCTAATGGTGCTATCT	TTGAGCTTGGACCTCGGGGAATTAGGCCAG	0.02	1.00	0.93	1.04	1.11
CLDN16^e	105	GACACAAGGGTGTAAAATGCACG	TTTCAGGGTGTGTTTGCATATGATTTAATCAATCAGTATG	0.04	1.00	1.02	1.01	1.00
PPOXex9	108	GTGCCATCACTGCAGTGTCTGTAGCTGTGGTGA	ATCTGCAGTACCAAGGAGCCCATCTGCCTGTCC	0.03	1.05	0.99	1.02	0.58
PPOXex11	111	CTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTA	CACAATTAGGACTGAAGGAGATGCCGAGCCACTGC	0.03	1.04	1.04	0.99	1.22
PPOXex4	114	CATGCCCTACCCACTGGCCTCAGGTAACACCAGCA	CCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGC	0.02	1.05	1.03	1.06	1.16
PPOXex8	117	CTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTC	AGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCAC	0.04	1.06	1.03	0.98	0.56
PPOXex12	120	CTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCT	GAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTC	0.03	1.06	1.09	0.99	1.16
PPOXex10	123	CTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATT	TGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTG	0.03	1.06	1.09	0.93	1.16
PPOXex13	126	GCTGTTAATGACTGTATAGAGAGTGGGCGCCAGGCAGCAGTCA	GTGTCCTGGGCACAGAACCTAACAGCTGATCCCCAACTCTC	0.03	1.08	1.03	1.04	1.13
RB1ex23^e	129	GTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTCCT	AGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACC	0.02	1.00	1.02	0.98	1.11
PPOXex2v4	132	CCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGC	TCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTG	0.02	1.01	1.00	1.09	1.08
SRY	135	CAGTGCAAAGGAAGGAAGAGCTTCTCCGGAGAGCGGGAATATTCT	CTTGCACAGCTGGACTGTAATCATCGCTGTTGAATACGCTTAACATAG	nd	nd	nd	nd	nd

^aSize of the ligaton product in bp.
^bThe 5^′ half-probes are preceded by the universal tag sequence GGGTTCCCTAAGGGTTGGA.
^cThe 3^′ half-probes are followed by the universal tag sequence CTAGATTGGATCTTGCTGGCAC and are phosphorylated at the 5^′ end.
^dPilot probe.
^eReference probes.
SD standard deviation.
Nd not determined.

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ISSN: 1750-1172

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