Genetic detection of Chinese hereditary nonpolyposis colorectal cancer

Table 1 Characterization of variants in PCR-SSCP and sequence detection

Family	Abnormal mobility	DNA change	Mutation	Group
C4-1	hMLH1 exon18	T insert in 2 081	Frameshift	Typical HNPCC
	hMSH2 exon15	C insert in 2 469	Frameshift
		G insert in 2 471	Frameshift
C13-1	hMSH2 exon11	T insert in 1 760	Frameshift
		A→C missense in 1 688	Tyr563Ser	Typical HNPCC
C11-1	hMSH2 exon13	T to A missense in 2 091	Cys697
			Terminator Condon	Typical HNPCC
C1-1	hMLH1 exon11	A insert in 934	Frameshift	Atypical HNPCC
C8-2	hMLH1 exon12	C to G missense in 1 198	Leu400Val
		C to G missense in 1 261	Val421Leu
		C insert in 1 364 and 1 372	Frameshift	Atypical HNPCC
C10-1	hMLH1 intron10	—	Polymorphism	Typical HNPCC

Table 2 Comparison of two kinds of HNPCC with PCR-SSCP and sequencing

	Typical HNPCC	Atypical HNPCC	P
	(n = 6)	(n = 6)
PCR-SSCP	4 (67%)	2 (33%)	0.269
Sequencing	3 (50%)	2 (33%)	0.575