PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Choi, Rihwa; Park, Hyung-Doo; Kang, Ben; Choi, So Yoon; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Choe, Yon Ho

doi:10.1186/s12881-016-0295-1

Table 1 Primers used for PCR, sequencing, and multiplex PCR for PHKA2 mutation analysis

From: PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Exon	Forward primer sequence	Reverse primer sequence	Product size (bp)
PHKA2
1	CCATCCCAAGAACCGACTAA	GCAACAGTTAGGTCCCCTGA	395
2	AGGTCCCGGTCCTCATCTAC	GAGAGGCCTACACCCAAACA	367
3	AGCCACAGTGATCAGGAGGT	AATGACATGGAATGCCCACT	174
4	GCTGGGACATTTTAGGCAAG	CACATGGCCTGACACACTG	467
5	CCTTCCCTCTTTTCGGAGAT	GCAGTTTGTGTGTGGAGGTG	419
6	GGCTGCAGGAACATAAAGGA	CCAGGACGGAGCACTCTTAC	401
7	TTGCTTAATGAAAAAGGAACACC	CTAGCTTGTGAGGCCAGAGG	349
8	TGACTTCTCGCCTGAGGAAT	ACCTCATGGGGAACTGAGG	427
9	TATCTGCCTTGGTGGCTTTT	CCAGCTCACCGTCCCTACTA	434
10	TCAGTCAAGCATGGGAAACC	CTCTGCCCAAATTGCAGAAT	414
11	CCGATCGTGTTTAGCTCCTC	TCCCAAAGTGCTGGGATTAC	475
12	ATTGGCCTGGAGGATGAGTA	TGGACACACAAGGCTGAGAG	399
13	TGAATATGTTGAGCCCCAAA	CCCAGTTGCAATCAAGGTT	428
14	ATGTCACCAGGCAGAAGAGG	CCGCCTGCTTTAGTTTTTGT	353
15	GAAGAACCAAGCCCCAAAAT	ACGCCTGTCTCAAAAAGCAT	421
16	ACTGGGTGGATTGAAACGAG	AGAAGCCCCTTCAGTGCTTA	389
17	CGGGAATCTTCTATGCCAGA	TGGTTCACCTCCCTATGTCC	444
18	CCACATGGTTGTGCAAAAGT	CGGTTTTTAAACGGGCATT	441
19	GCTTGCTACCCATGGTCACT	GGGGCATTTTGTTGTCTTCT	364
20	GAGGCAAAGGTTGCAGTGAG	TGCAAGTCAGATTCCAGACAA	412
21	GAAAACTGGAGCACAGCACA	CCATGTCAGGATGCAATGAG	434
22	ACCACGTCCTGATGTTAGGC	ATGGGGCTCCTTCACAAGTA	449
23	TCCCTGTCTGGGTTGCTTAG	AGACGCATCCATGTGACAGA	382
24	TCTGTCACATGGATGCGTCT	TCTCCTGAGGCAGACACACA	303
25	ACAGCCTTCCTCAGAGTGGA	GGATGCTGGGTTCGAGATAA	321
26	TTTCAGCCCCAAAGCAATAG	ACACTGCGAGCAAGTCTCAA	435
27	CAGAGAAGGCCCTCATTGTC	GGACAGGGGTGTGTTCAGAT	376
28	CCATGAGAAATGCACTCGAA	ATAGAGCCGCCCTCTACACA	337
29	CTCTGCTGCTGCTTTCTGTG	GACGGAGAACAAAGCTCAGG	365
30	GTGGTGTTCTGGCATTTGTG	ATCCTCAGGGCTGTGTGTTT	383
31	TGTTCCATCGAAAACACAGC	TGATGCCAATAAATGCTGGA	436
32	GCTACGGTCACCCTTGGTTA	TTTTTCCCCATCATCTGTGA	410
33	CTCAGAAGGCCAAGGCTCTA	CTGATGGGACATGCTTTCCT	415
MECP2 ^a
4	CGCTCTGCCCTATCTCTGAC	TCCCCTCGGTGTTTGTACTT	1061

^aUsed as amplification control of MECP2 gene exon 4 located in Xq28 for multiplex PCR

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ISSN: 1471-2350

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