Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China

Table 1 Sequences and localization of primers used for Amplification of cDNA of MLH1

Sense	Antisense
MLH1-1F (1-18)	MLH1-5R (2198-2175)
CTTGGCTCTTCTGGCGCC	GAGCGCAAGGCTTTATAGACAATG
MLH1-4F (1333-1353)	MLH1-6R (2484-2459)
GCTGAAGTGGCTGCCAAAAAT	TATGTTAAGACACATCTATTTATTTA

Table 2 MLH1 primers used for sequencing of cDNA

Sense	Antisense
MLH1-1F CCTGGCTCTTCTGGCGCC	MLH1-1R CTTTTCTCCTCGTGGCTATGTTGT
MLH1-2F ATGTGCTGGCAATCAAGGGA	MLH1-2R GGTGCACATTAACATCCACATTCT
MLH1-3F CCAAAAACACACACCCATTCCT	MLH1-3R CCTTTGTTGTATCCCCCTCCA
MLH1-4F GCTGAAGTGGCTGCCAAAAAT	MLH1-4R CATCTTCCTCTGTCCAGCCACTC
MLH1-5F TTGCCATGCTTGCCTTAGATAGTC	MLH5R  GAGCGCAAGGCTTTATAGACAATG
MLH1-6F GCTCCATTCCAAACTCCT	MLH1-6R TATGTTAAGACACATCTATTTATTTA

Table 3 Germline mutations of MLH1

Families	Genes	Exon	Codons affected	DNA change	Amino acid change	Mutation types
H2	MLH1	8	217	C→T, at 649	Arg→Cys	Missense
H31	MLH1	16	581	C→T, at 1742	Pro→Leu	Missense
H109	MLH1	12	384	T→A, at 1151	Val→Asp	Missense
H114	MLH1	12	384	T→A, at 1151	Val→Asp	Missense