APC gene mutations in Chinese familial adenomatous polyposis patients

Table 1 Micromutations and large fragment deletions of APC gene germline mutation in Chinese patients with familial adenomatous polyposis detected in this study

Family No.	Exons/introns	Base changes	Protein changes	Mutation types
2	Exon15	c.3927-3931delAAAGA	p.Glu1309AspfsX4	Frameshift mutation
3	Exon15	c.4179-4180GAdelinsT1	p.Asp1394LeufsX21	Frameshift mutation
4	Exon15	c.2336-2337insT1	p.Leu779PhefsX9	Frameshift mutation
5	Exon10	c.1327G>T	p.Glu443X	Nonsense mutation
6	Exon15	c.3923-3929delAAGAAAA1	p.Lys1308ArgfsX11	Frameshift mutation
7	Intron7	c.657+1 G>A		Splicing mutation
8	Exon15	c.3183delACAAA	p.Gln1062X	Frameshift mutation
10	Exon15 start1			Large fragment deletion
11	10A (Alternative exon) and Exon111			Large fragment deletion
12	Exon15	c.3202_3205delTCAA	p.Ser1068GlyfsX57	Frameshift mutation
14	Intron4	c.532-2A>T1		Splicing mutation

¹Micromutations or large fragment deletions were not reported previously. Mutation sequencing was shown in Figure 1; Peak of large fragment deletion was shown in Figure 2.

Table 2 Snp sites of APC gene germline mutation in Chinese patients with familial adenomatous polyposis detected by DNA sequencing

Exons	APC gene loci	Base changes	Ncbi dbsnp ID	Positive families
Exon11	89271	C/T	refSNP ID: rs2229992	1-8; 10; 12-14
Exon13	90978	A/G	refSNP ID: rs351771	1-12
Exon15	102187	A/G	refSNP ID: rs41115	1-7; 9-14
Exon15	102742	A/G	refSNP ID: rs42427	1-14
Exon15	102976	G/T	refSNP ID: rs866006	1-13
Exon15	103173	A/T	refSNP ID: rs459552	1-14
Exon15	103588	A/G	refSNP ID: rs465899	1-14