基于RNA-Seq技术的先天性巨结肠转录组学

表1 FFPE样本测序数据质量一览表

样品名称	Raw reads	Clean reads	Clean bases	错误率(%)	Q20(%)	Q30(%)	GC含量(%)
H0129_BB	30731849	26953378	8.09G	0.02	97.13	92.87	46.91
H0127_BB	29919105	27594122	8.28G	0.02	97.31	93.14	46.83
H0116_BB	38469223	31466683	9.44G	0.02	97.24	93.01	43.31
H0129_ZC	35545978	31402169	9.42G	0.02	96.98	92.50	46.71
H0127_ZC	37290696	32446763	9.73G	0.02	96.97	92.52	48.29
H0116_ZC	27778974	26742224	8.02G	0.02	96.59	90.78	46.40

BB: 病变肠组织样本; ZC: 正常肠组织样本.

表2 3对肠组织样本测序数据与人类基因组参考序列比对情况

样品名称	H0129_BB	H0127_BB	H0116_BB	H0129_ZC	H0127_ZC	H0116_ZC
Total reads	26953378	27594122	31466683	31402169	32446763	23766915
Total mapped reads	20869303	22462832	24245772	24920590	23963792	21364363
Uniquely mapped reads	20174846	21835711	23422760	24129028	23065295	20073384
Multiple mapped reads	694457	627121	823012	791562	898497	1290979
Total mapping rate	77.43%	81.40%	77.06%	79.36%	73.86%	89.89%
Uniquely mapping rate	74.85%	79.13%	74.44%	76.84%	71.09%	84.46%
Multiple mapping rate	2.58%	2.27%	2.62%	2.52%	2.77%	5.43%

BB: 病变肠组织样本; ZC: 正常肠组织样本.

表3 病变组与正常组差异表达基因显著性富集的通路

序号	通路ID	通路	P值	校正P值	基因数
1	hsa04976	Bile secretion	1.7E-09	2.8E-07	22
2	hsa04974	Protein digestion and absorption	3.0E-09	2.8E-07	23
3	hsa04975	Fat digestion and absorption	3.6E-08	2.2E-06	16
4	hsa00830	Retinol metabolism	2.1E-07	9.8E-06	17
5	hsa04977	Vitamin digestion and absorption	3.2E-07	1.2E-05	11
6	hsa01100	Metabolic pathways	4.1E-07	1.3E-05	121
7	hsa00980	Metabolism of xenobiotics by cytochrome P450	1.4E-06	3.7E-05	17
8	hsa00982	Drug metabolism - cytochrome P450	2.3E-06	5.3E-05	17
9	hsa00140	Steroid hormone biosynthesis	4.1E-06	8.6E-05	14
10	hsa00500	Starch and sucrose metabolism	1.0E-05	1.9E-04	13
11	hsa04973	Carbohydrate digestion and absorption	1.4E-05	2.4E-04	12
12	hsa00591	Linoleic acid metabolism	3.4E-05	5.4E-04	10
13	hsa03320	PPAR signaling pathway	9.6E-05	1.4E-03	15
14	hsa00330	Arginine and proline metabolism	1.1E-04	1.5E-03	13
15	hsa00590	Arachidonic acid metabolism	2.0E-04	2.5E-03	13
16	hsa04614	Renin-angiotensin system	6.6E-04	7.8E-03	6
17	hsa02010	ABC transporters	9.1E-04	1.0E-02	10
18	hsa00910	Nitrogen metabolism	9.9E-04	1.0E-02	7
19	hsa00100	Steroid biosynthesis	1.9E-03	1.8E-02	6
20	hsa00380	Tryptophan metabolism	2.5E-03	2.4E-02	9
21	hsa00051	Fructose and mannose metabolism	4.0E-03	3.6E-02	8
22	hsa00340	Histidine metabolism	4.3E-03	3.7E-02	7
23	hsa04964	Proximal tubule bicarbonate reclamation	5.4E-03	4.4E-02	6
24	hsa04020	Calcium signaling pathway	6.1E-03	4.8E-02	22
25	hsa00360	Phenylalanine metabolism	6.3E-03	4.8E-02	5