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grupo 2: SM37) que apresentaram a mesma deleção por aCGH, e de seis
familiares, sendo dois da paciente SM56 (SM56.2 e SM56.3) e quatro da
SM37 (SM37.2, SM37.3, SM37.4 e SM37.5).
Tabela 8 - Iniciadores utilizados nas amplificações pela PCR.
Gene Chr Seqüências
ROBO1
GAPDH*
Reação de Validação
3 (P1)
(I4-5)
3 (P2)
(E4)
F: 5’ CCTCTGTCCTCAAATTCCCTTGGA 3’
R: 5’ TGCTCTTAATCCTCTTGTCTCACGA 3’
F: 5’ GCAGGCTCCCGTCTTCGTCA 3’
R: 5’ GCAGTTCAAAGTTGCAGGTTCTCCT 3’
Mapeamento da alteração
3 (P1)
(E4)
3 (P2)
(E4)
3 (P3)
(E4)
3 (P4)
(E4)
3 (P5)
(E4)
3 (P6)
(E4)
12
(I2-3)
F: 5’ GGTGTAGTCAAGGCGGACAC 3’
R: 5’ TGACGAAGACGGGAGCCTGC 3’
F: 5’ GCTAGGCCAATGTTATGCAGTG 3’
R: 5’ GCAGTTCAAAGTTGCAGGTTCTCCT 3’
F: 5’ GTTGAACACCCTTCAGACCTG 3’
R: 5’ GGTGTGAGCGAGGGTCATCT 3’
F: 5’ CACCCACTATTGAATGGTACA 3’
R: 5’ CCGTCCATGTACTATACGTAAG 3’
F: 5’ AATGTTGCTGCCGAGTGGAT 3’
R: 5’ GCGCCCAGTTTACTTACTGGCTAC 3’
F: 5’ AAGGAGTCTATGTCTGTGTAGCAAGG 3’
R: 5’ GATCAAACAAATGACGCCACTCTG 3’
F: 5’ GCAACCGGGAAGGAAATGA 3’
R: 5’ CAGGAGCGCAGGGTTAGTCA 3’
Tamanho do
Amplicon
140 pb
99 pb
179 pb
209 pb
145 pb
122 pb
160 pb
118 pb
88 pb
HPRT*
X F: 5’ GAACGTCTTGCTCGAGATGTGA 3’
110 pb
(E3) R: 5’ TCCAGCAGGTCAGCAAAGAAT 3’
Legenda: * Genes endógenos; E: éxon; I: íntron; F: iniciador forward; R: iniciador reverse;
P: par d
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