Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Table 1 Variants/mutations of SDHB and SDHC with primers, restriction enzymes, PCR restriction products, and allele frequency.

Variant	Gene	Primers^a	PCR Product size	Enzyme	Normal Product	Variant Product	Allele^b Frequency
Ser8Ser	SDHB	CGCGGCTAGTGGGTCCTCAG	165	Xho I	140+25	165	4/384
		CAAGGGTTGTGGCCGGCAACCGGCGCCTCG
Ala6Ala	SDHB	CAGTGGATGTAGGCTGGGCGCC	130	Bsr BI	130	110+20	8/260
		AACCGGCGCCTCAAGGAGCG
Trp47X	SDHB	TCCTTCAATAGCTGGCTTTCACAGA	119	Nco I	24 + 95	119	1/314
		ATCAAGAAATTTGCCATCTATCCATG
Arg94Lys	SDHB	GACTCTACTTTGACCTTCCGAAGATCCTGC	167	Pst I	109+33+25	134+33	0/296
		TAGGTTGCACAGCAAGTTCAC
Arg115X	SDHB	ATCAATGGAGGCAACACTCTAGCTTGCAGC	150	Pvu II	150	125+25	0/402
		TGCAAATAAAAACAAAACCA
c.423+1G>A	SDHB	CATGTATGTGATAAAGGATCTTGTTCTC	157	Bsp HI	157	132+25	0/294
		TTACTATCTGACTAGAAG
Trp218Ser	SDHB	AGCTAATCATCCCTGGTTTT	215	Taq I	215	181+34	0/318
		TTGTGAGCACATGCTACTTC
Arg72Cys	SDHC	GCCAATGAAACAGCCAAGTT	163	Dsa I (=Btg I)	49+22+92	49+114	0/328
		TTCCTTTTTAAAATTGTCTTTGTGTG

^aMismatched nucleotides for the PIRA PCR technique are indicated in bold. ^bAllele frequency is shown as total chromosomes.

ISSN: 1471-2350