Mutations in the ext1 and ext2 genes in Spanish patients with multiple osteochondromas

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título	Mutations in the ext1 and ext2 genes in Spanish patients with multiple osteochondromas
fecha de publicación	28.02.2016
tamaño	31.83 Kb.
tipo	Documentos

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
P. Sarrión¹, A. Sangorrin², R. Urreizti¹, A. Delgado³, R. Artuch², L. Martorell², J. Armstrong², J. Anton², F. Torner², M.A. Vilaseca², J. Nevado⁴, P. Lapunzina⁴, C.G. Asteggiano^{3 5 6}, S. Balcells¹^†, D. Grinberg¹^†^*
¹Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Spain; ²Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain; ³CEMECO, Universidad Nacional de Córdoba, Córdoba, Argentina; ⁴INGEMM, Hospital Universitario La Paz, CIBERER, Madrid, Spain; ⁵Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Córdoba, Argentina; ⁶Facultad de Medicina, Universidad Católica de Córdoba, Córdoba, Argentina

^†Co-last authors

*Online Supplementary Table S1. Primers used to amplify the exons of the EXT1* and EXT2 genes**
Gene	Exon	Upstream primer 5'-3'	Downstream primer 5'-3'	Amplicon length (bp)	Annealing temp. (ºC)
EXT1	Exon 1.1*	TGGGAAACTTGGGTGATTCTT	GAATCCTCGTTTTCCAATTGATCCC	239	55
	Exon 1.2*	GGCTTGCAGTTTAGGGCATCGAG	TTGTTCCACAAGTGGAGACTCTG	396	57
	Exon 1.3*	CCAGTTGTCACCTCAGTATGTGC	AACTTCACACCTGGACCAAG	500	57
	Exon 2	TGCGTAAATTCATGCACATGG	GGAGAGGTGATAATGTTAAACC	268	60
	Exon 3	TGCCAGTCATTGAGTTTGTAC	GGAGATTTTGTTGGAAAGTGAA	386	60
	Exon 4	CTATATGCTAGAAGCCAAATGC	CAATATATCCAAGTACAGGAATC	372	60
	Exon 5	TCCATTACTCTCTCTGTCTTG	ATGCAGGGTGTTAGATGGAC	410	60
	Exon 6	CCTGTCAGGACATAAGAAGC	TGAAAAGGGTGTAACGAGGC	426	60
	Exon 7	TCTGCCGTTTTGTCTTGCTG	ATACACACAAGGTCACAAAGC	450	60
	Exon 8	GTGAGGATGGGAGAATTGTC	AGGAATCGGGCTGATTAAAAC	334	60
	Exon 9	GAATTAATGTTTCGCCACAGTC	AAACACACATTTGACACATCAG	435	60
	Exon 10	CATCATCATTATCATTACCATTC	GGAGAGCTTTACATCCTTGG	525	60
	Exon 11	TTGCTGCTTGCTCATTTGCC	TTTGTCATTCTGCTCATCTAAG	420	60
EXT2	Exon 4.1*	TGAGTGACAGAGTGAAACCC	CAGAGCATAGATATACACCTTG	488	60
	Exon 4.2*	AGCCGACAGTCCCATCCC	AAACCAACTCAAGAGCAGAAG	425	60
	Exon 5	TGGGATTTCCAGGAGTTTGC	CACTTCTAAATCTTCAGGAGG	392	60
	Exon 6	CCGAGATGCGTGTATAAGGC	CTTAGAAAACTTGGTAGACAGC	496	60
	Exon 7	TCAAGAACTGTTCCCAAATAAG	TTGCACGAACACAAGACACC	642	60
	Exon 8	AGTATTGCTTGGCGTCAACC	TAGACCAGTGTACTAACTCTC	401	60
	Exon 9	AATGGAGCTGTAAGAGAACTC	ATCTAGTGGAGGAAGTAAACC	408	60
	Exon 10	TGGCTTGAACAGCAGGGAG	AATTATGCTGCCCTTATCAGG	446	60
	Exon 11	CACCAAGCCTGCCATGTTTG	GGCATGCTGTCTCAGAAATG	408	60
	Exon 12	ACCTTTGGATTTGATGAGAGC	TAACCCACACTCTTACGCAC	405	60
	Exon 13	TCTCCAGAATCCCATTATGAC	CATATTTTCTACTATGAGCGTG	469	60
	Exon 14	GTCACTTGACCAAAAGCATTC	GAGCTTAAAGTTTATCTAGTCC	417	60
	Exon 15	CTTGTGAGTTCTGCCGTTGG	ACAAATTGAGTGAGTAGCATTC	471	60
	Exon 16	ACCTGTCAACCTTTTTAAGAAC	CCAAGATCCAAGTAGGTCAAC	445	60
* Exon 1 of EXT1 and exon 4 of EXT2 were amplified in 3 and 2 fragments, respectively

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