Table A2.

List of Fragments Analyzed for Mutation Screening

Gene and Fragment	PCR Forward Primer	PCR Reverse Primer	Size (bp)	DNA Variation	Positiona	IDb	Location/Effect	No. of Heterozygotesc	Typed?d
ALDH5A1:
al_promoter_a	GGGTAGCTAGTATGACTTTGAACG	GTCCATAGATGCGCTGGTG	395	T →G	119	al_pr_1	Promoter	7
al_promoter_b	CGATCGCTCCCAATCAATAC	AAGCAAGAGGAGCGAGGAG	459	C→G	230	rs2744575	Promoter	12
…	…	…	…	C→T	281	rs4646828	Promoter	8
…	…	…	…	C→G	356	rs4646830	Promoter	13
al_promoter_ex_1	TCTGTGGCTCTGCAACCTTC	GCATCCGGGCTCTCTCAC	519	None
al_ex_2	CACTCACGGACATACCCAGA	TTCTTCAGCTACAGCCAGCA	386	None
al_ex_3	AGGAACACAGAGCCATGCTT	ACACACTTCCACATCCAGCA	389	C→T	166	rs2760118	His→Tyr	10
…	…	…	…	C→T	173	rs3765310	Pro→Leu	1
al_ex_4	AACATGCCTTCCTTTGCACT	TATGGCCTGCAGATGTCAGA	400	G→A	195	rs2744584	Intronic	8
…	…	…	…	G→A	297	rs2817220	Intronic	8	Yes
al_ex_4b	TTGCTGAGGCTTTCCAGAAC	CCTAGGAAAAGGGGGAGCTA	447	None
al_ex_5	TTGGCACATGTTTGCTGTTT	TTCTGTGAGGGGGTTTCATC	426	None
al_ex_6	CACTACCACACCCAGCCTCT	ACGCAAACACACATCCTGAA	396	C→T	166	al_ex6_1	Intronic	3
…	…	…	…	G→A	185	al_ex6_2	Intronic	3
al_ex_7	ATGGCAGTTTGAGCACATGA	TGTCAACCCACCCCTCTCTA	402	None
al_ex_8	TCTGCAAATGTGGTTCCTTCT	CAGCCCAGGAATCTCTTTCA	414	None
al_ex_9	TTCCTTTCCTCTCCCCCTTA	TGGGACTTTGAGATGTGTGC	399	None
al_ex_10a	TGCCATATATGTCCTTTTATCCTG	GGCAGTGATCAAGCCTTTGT	577	None
al_ex_10b	GCAGACTCCCAGAGAACCAG	TCAGGAATAGGGAGAGGTGCT	400	A→C	48	rs1054899	3′ UTR	4	Yes
al_ex_10c	AATTGTCCGTGCTTCTGTGA	CGGTGCTGCTCGTAACAAT	417	None
KIAA0319:
k_ promoter_1	TGAGACGGAGTCTTGCTCTG	CCACAGAAAACTTGGGTGGA	611	G→A	403	rs1883592	Promoter	7
…	…	…	…	G→T	413	rs9467247	Promoter	9	Yes
…	…	…	…	T→A	441	rs1883593	Promoter	1
…	…	…	…	C→G	448	rs1883594	Promoter	7
…	…	…	…	del T	478	k_pr_del_1	Promoter	8	Yes
k_promoter_2	CCTAGCACAGGTTCCCAGTC	AGTGATTCAGCGCCTTTCC	519	G→A	129	rs3756821	Promoter	12
				26bp del	404	k_pr_del_2	Promoter	11
k_ex_1_1	GGAAAGGCGCTGAATCACT	CACGTTCACACCCTCGCG	317	G→A	234	k_ex1_1	5′ UTR	3
k_ex_1_2	GTGTGTAAGACCTGCGATG	AGGGCGTCTCGATTCTAC	209	C→T	66	k_ex1_2	5′ UTR	2
…	…	…	…	A→C	108	rs2038135	5′ UTR	2
…	…	…	…	C→G	128	rs2038136	5′ UTR	4
…	…	…	…	A→C	132	rs2038137	5′ UTR	10	Yes
k_ex_2	GCTCTGTGATGTGACCAGGA	AAACCAACAGCGTCTTCACC	379	C→T	318	rs4472344	Intronic	2	Yes
k_ex_3a	TGCCTCTCTCCCTCATTAGAA	TTCTGATATCCTCAGGTGAGTCC	397	None
k_ex_3b	TATGGGGACATGATGCTGAA	CCAAGCACATCCTGAACACA	481	A→C	79	rs4576240	Tyr→Pro	2	Yes
k_ex_4	TTGAGTTGCTTGAAGAGTTGGA	CCGTTTCTGGCACATGATAG	391	G→A	198	rs4504469	Ala→Tyr	12	Yes
k_ex_5	GAGGAAAAACGTGCCTTAGC	GTGAAAAAGAATCGGCGTTG	349	A→T	282	k_ex5	Intronic	10	Yes
k_ex_6	CAAGAGTGAGGGGATAAAAACAA	GCTCTATGCCGTTACGCTGT	340	None
k_ex_7	CCTCTGCAGCGAAGCTAAAG	GTCATCCAGGCACCAAAAAT	379	C→T	183	rs807508	Intronic	3	Yes
k_ex_8	TGTCCAGACAAGCTCCTGAA	TCCTCCTAGCTTTGATGCAGA	374	G→C	160	rs2744564	Intronic	1
…	…	…	…	ins T	187	rs3215493	Intronic	6
k_ex_9	AGTGGGAACAGCCTCATTCA	ATAAAGGCAGGGACCCACTT	381	None
k_ex_10	AGCCTGGCATATTCTTCCAA	AGAGCCAATTGGTTGCTGTC	498	G→A	239	rs2744559	Gly→Ser	4
k_ex_11	GCCTGGCCAAACACATTTCT	AAGTGTGGCATCTCCAAACC	351	None
k_ex_12	CACTCCAGGATTCCAAAGGA	TGCGCAAGCTGATTGTTTAC	371	T→C	62	rs2817195	Intronic	2
k_ex_13	CAAATCGCATGCCTGTCATA	GCATCTGCTGCGAACAAATA	339	None
k_ex_14	TGCAAGGTGGAAGAGTTGTG	ATATTGTTTGCAGCCCAAGC	328	None
k_ex_15	GGATCAACAGAAGCCCAGAA	CATCCTCAAAGTGGGTCCAG	347	T→C	60	rs2760163	Intronic	4
…	…	…	…	C→T	66	rs2760164	Intronic	4
…	…	…	…	A→G	95	rs2744550	Ser→Val	4
…	…	…	…	T→C	99	rs2817191	Val→Val	4
k_ex_16	CCTGTGCAAATGTCCAAGTG	GGCCATACTACTGCCCTTTG	370	A→G	242	k_ex16	Intronic	2
k_ex_17	TCAATTCCTTGGCTCACAGA	TCCATGATTGGCAAGTCTGA	350	T→C	108	rs3903801	Intronic	9
…	…	…	…	T→C	260	rs807541	Ala→Ala	7
k_ex_18	AGCCCTACACACCTCTTTGC	TGGACCTCCTCTCAAGCAAT	364	G→A	116	k_ex18_1	Arg→His	1
…	…	…	…	C→T	305	k_ex18_2	Intronic	4
…	…	…	…	G→T	330	k_ex18_3	Intronic	1
k_ex_19	CAGGTGGCCTTTCCTTGTAG	TTTGTGGCAGAAAGTGCATTA	332	G→A	209	rs2243831	Intronic	13
…	…	…	…	T→C	299	k_ex19	Intronic	7
k_ex_20	CTGACCTGGCCTTGTGTATG	GCTGACTCCAGCAAATCGTT	351	A→G	180	rs807535	Lys→Lys	5	Yes
…	…	…	…	A→G	245	rs807534	Tyr→Cys	5
…	…	…	…	T→C	285	k_ex_20	Intronic	13
k_ex_21	CAACCACAACGACTGACAGC	TGGGGAAGAAGGTCAATGAA	359	C→T	37	rs2817245	Intronic	12
…	…	…	…	A→G	292	k_ex21	3′ UTR	2
Region that spanned TTRAP and THEM2:
tt_th_1	ACTTTTTAAGTGCAGGAACTG	GATACCAGGTAGCCCTGC	446	ins A	67	tt_ex1_2	Intronic	15
tt_th_2	TCTGCCTCAGCATCGTCC	GCCTCCTGTTCCGCTTAAA	491	C→T	456	tt_ex1_1	5′ UTR	1
tt_th_3	GCTTTTTCACCTCAGGCTC	CTTTGGGCTTTGCGCAAG	456	ins CC	188	rs3835233	5′ UTR	10	Yes
…	…	…	…	C→T	306	th_ex1	5′ UTR	5	Yes
…	…	…	…	del CCT	391	tt_th_del	5′ UTR	6	Yes
tt_th_4	CACTAACTTCTGGACTTTCC	TTCGACCCAGCATATTTAG	337	A→G	170	th_ex1_2	Intronic	6
…	…	…	…	C→T	246	rs3181228	Intronic	3	Yes
TTRAP:
tt_ex_3	GGGGATGCAAGTCATCAGTA	GCCCACAACCTTGAACTGTTA	504	T→C	149	rs2143340	Intronic	11	Yes
tt_ex_4	TGTTGTGGGATTTCCTTCATT	TCCTGAAAAATCATCCATTT	391	A→C	250	rs3212231	Intronic	13
…	…	…	…	T→C	317	rs3212232	Intronic	12	Yes
…	…	…	…	del ATTAAT	353	rs3033236	Intronic	7	Yes
tt_ex_5	AAATATCTGTTACCTGTTTGC	TAAAGGCAATGGTTTTAAAAAG	317	None
tt_ex_6	TAGTGCTGATTTTACAGTTTC	GAGTGACTAAAGGTCCTA	403	T→C	134	rs1129644	Asn→Asn	8
…	…	…	…	A→G	227	tt_ex6	Leu→Leu	2
tt_ex_7	CCCCTCTGGCTGTCTTGATA	AAAACCCACACTTGAAAAGCA	502	C→T	107	rs3181244	Intronic	14
…	…	…	…	G→C	175	rs3181245	Intronic	20
THEM2:
th_ex_2	TTCAATCCATTGTTCTTCATGG	GGTGCAGTTAAGGAGATAAGCA	394	None
th_ex_3	GTAAAATAAGTTACATAGGAACAC	GAAAACAAGATGCTTAAAGTG	441	A→G	349	th_ex3	3′ UTR	1	Yes

^aDistance in bp from the first base of the forward primer.

^bReference numbers (rs#) from dbSNP are used, when available.

^cNumber of heterozygotes detected in 32 individuals with dyslexia.

^dMarkers genotyped for the association analysis.