Single Nucleotide Polymorphisms in Selected Apoptotic Genes and BPDE-Induced Apoptotic Capacity in Apparently Normal Primary Lymphocytes: A Genotype-Phenotype Correlation Analysis

Table 1

Conditions of genotyping assays for the selected polymorphisms of some apoptotic genes.

Gene	Position, base change, and rs#	Genotyping method^(a)	Primer	PCR product	Enzyme	Gel band pattern
p53	R72P G>C rs1042522	PCR-RFLP	5^′-ATCTACAGTCCCCCTTGCCG-3^′ (sense) 5^′-GCAACTGACCGTGCAAGTCA-3^′ (antisense)	296 bp	BstUI	G allele: 169 bp, 127 bp
						C allele: 296 bp
p53	Intron 3 16-bpins/del rs17878362	PCR	5^′-TGGGACTGACTTTCTGCTCTT-3^′ (sense) 5^′-TCAAATCATCCATTGCTTGG-3^′ (antisense)			Del: 180 bp
						Ins: 196 bp
p53	Intron 6 G>A rs1625895	PCR-RFLP	5^′-TGGCCATCTACAAGCAGTCA-3^′ (sense) 5^′-TTGCACATCTCATGGGGTTA-3^′ (antisense)	404 bp	MspI	G allele: 336 bp, 68 bp
						A allele: 404 bp
Bcl-2	−938C>A rs2279115	PIRA-PCR: mismatch, antisense primer +2 C-to-G	5^′-TCCTGCCTTCATTTATCCAGCA-3^′ (sense) 5^′-CCAGGAGAGAGACAGGGGACA-3^′ (antisense)	125 bp	NlaIII	C allele: 106 bp, 19 bp
						A allele: 125 bp
BAX	−248G>A rs4645878	PIRA-PCR: mismatch, sense primer –2 G-to-C	5^′-CATTAGAGCTGCGATTGGACCG-3^′ (sense) 5^′-GCTCCCTCGGGAGGTTTGGT-3^′ (antisense)	109 bp	MspI	G allele: 89 bp, 20 bp
						A allele: 109 bp
CASP9	Q221R G>A rs1052576	PIRA-PCR: mismatch, sense primer –2 G-to-C	5^′-GGCTTTGCTGGAGCTGGCCC-3^′ (sense) 5^′-AGTACCCAATGCCTGCCCAGGG-3^′ (antisense)	121 bp	MspI	G allele: 102 bp, 19 bp
						A allele: 121 bp
DR4	T209R C>G rs4871857	PCR-RFLP	5^′-ATCCTCTGGGAACTCTGTGG-3^′ (sense) 5^′-GGGGACAGGCAGATGGAC-3^′ (antisense)	300 bp	DraIII	C allele: 200 bp, 100 bp
						G allele: 300 bp
Fas	−1377G>A rs2234767	PIRA-PCR: mismatch, sense primer –2 A-to-G	5^′-TGTGTGCACAAGGCTGGCGC-3^′ (sense) 5^′-TGCATCTGTCACTGCACTTACCACCA-3^′ (antisense)	122 bp	BstUI	G allele: 104 bp, 18 bp
						A allele: 122 bp
Fas	–670A>G rs1800682	PCR-RFLP	5^′-ATAGCTGGGGCTATGCGATT-3^′ (sense) 5^′-CATTTGACTGGGCTGTCCAT-3^′ (antisense)	193 bp	ScrFI	A allele: 193 bp
						G allele: 136 bp, 57 bp
FasL	−844T>C rs763110	PIRA-PCR: mismatch, sense primer –7 A-to-C	5^′-CAATGAAAATGAACACATTG-3^′ (sense) 5^′-CCCACTTTAGAAATTAGATC-3^′ (antisense)	85 bp	DraIII	T allele: 66 bp, 19 bp
						G allele: 85 bp
CASP8	D302H G>C rs1045485	PIRA-PCR: mismatch, sense primer –2 A-to-G	5^′-CATTTTGAGATCAAGCCCCGC-3^′ (sense) 5^′-CCCTTGTCTCCATGGGAGAGGA-3^′ (antisense)	132 bp	BstUI	G allele: 112 bp, 20 bp
						C allele: 132 bp
CASP10	I522L A>T rs13006529	PIRA-PCR: mismatch, antisense primer +4 A-to-T	5^′-GAGTGGACAAACAGGGAACAAA-3^′ (sense) 5^′-AGAACCAACAAAAACTCTCTGCAATA-3^′ (antisense)	122 bp	SspI	T allele: 97 bp, 25 bp
						A allele: 122 bp
CASP3	−1337C>G rs1405937	PIRA-PCR: mismatch, sense primer –2 C-to-A	5^′-ATAGGCGCAAGTGTTAGAAACAGGAT-3^′ (sense) 5^′-CACCAACACATGTGAGCACGAC-3^′ (antisense)	112 bp	FokI	C allele: 112 bp
						G allele: 76 bp, 36 bp
CASP7	D255E C>G rs2227310	PIRA-PCR: mismatch, sense primer –2 G-to-C	5^′-CCTGGAGGAGCACGGAAAACA-3^′ (sense) 5^′-TGGAGACCACACAGGGGATCTG-3^′ (antisense)	137 bp	PvuII	G allele: 115 bp, 22 bp
						C allele: 137 bp

(a)RFLP = restriction fragment length polymorphisme; PIRA = primer-introduced restriction analysis.