Table 3.

Mutations under MLPA Ligation Sites

Exon	Probe length (nt)	Ligation site sequence	Mutations in area of ligation site sequence*
1,5′ UTR	154	5′-GAGCAAAT-TTGGGGCC-3′	N/A
1,5′ UTR	238	5′-AAAGGGTT-GAGCGGCA-3′
2	198	5′-TTGGTATA-TGTCTGAC-3′	(5)
3	136	5′-CTGCTAGT-GTTGCCAA-3′	(3)
3	220	5′-TTCAAAGA-AAAATCCT-3′
4	247	5′-AGAATCAT-AGCTTCCT-3′	444delA, African; 451del8, Chinese; (6)
5	346	5′-AAATAAGT-ATTGGACA-3′	Q179K, Hispanic (7)
6a	274	5′-GAGTTGTT-ACAGGCGT-3′	L218X, Pakistani (4)
6b	301	5′-ATTTTCAA-TCATTTCT-3′	935delA, Hispanic; 936delTA, Hispanic (3)
7	337	5′-ACTTCAAT-AGCTCAGC-3′	S307N, Turkish (9)
8, IVS 8	364	5′-TTTCTAGA-TTAAGAAG-3′	N/A
9, IVS 8	391	5′-TCCATCAC-ACTGGTAG-3′	N/A
10	463	5′-TCCACTGT-GCTTAATT-3′	H484Y, Hispanic; S485C, Chinese-Caucasian (5)
11	418	5′-CAGAGAAA-GACAATAT-3′	K536X, Iranian; 1742delAC, Japanese (5)
12, IVS 12	292	5′-TGCATTTT-ACCTCTTG-3′	N/A
13	142	5′-CAGATTCT-GAGCAGGG-3′	(1)
14a	160	5′-GTATGTGT-TCCATGTA-3′	(3)
14b	178	5′-CTGCTTCT-TTGGTTGT-3′	2766del8, Tunisian (1)
15	204	5′-GCTTGCTA-TGGGATTC-3′	(1)
16, IVS 16	229	5′-GATGTAAT-AGCTGTCT-3′	N/A
17a	256	5′-TGCAACAA-AGATGTAG-3′	3171delC, Hispanic; 3173delAC, Turkish; F1016S, Hispanic (5)
17b	283	5′-CAGTATGT-AAATTCAG-3′	H1085R, Japanese (4)
18	310	5′-CCATGAAT-ATCATGAG-3′	M1137R, Hispanic (6)
19	353	5′-TCTGTGTA-TTTTGCTG-3′	3791delC, African-American (2)
20	382	5′-CTTGGGAT-TCAATAAC-3′	3960delA, Hispanic (2)
21	409	5′-TGCAACTT-TCCATATT-3′	W1316X, African-American (2)
22	436	5′-GAACAGTT-TCCTGGGA-3′	No mutations
23	148	5′-CCAGCATT-GCTTCTAT-3′	M1407T, Turkish; E1409K, Hispanic (2)
24	190	5′-ATCCAGAA-ACTGCTGA-3′	No mutations
24	172	5′-CTCCTCTT-TCAGAGCA-3′

UTR, untranslated region; IVS, intervening sequence; N/A, not applicable, probes not in coding region; No mutations, no reported mutations are present in the area of the ligation site sequence, regardless of ethnicity.

^*Without parentheses, non-Caucasian mutations. In parentheses, total number of mutations in area of ligation site sequence.