母女同患原发性胆汁性胆管炎报告并基因分析

秦玉洁; 周文秀; 周兴念; 程明亮; 李宏

doi:10.3969/j.issn.1001-5256.2023.02.021

母女同患原发性胆汁性胆管炎报告并基因分析

DOI: 10.3969/j.issn.1001-5256.2023.02.021

1.
贵州医科大学，贵阳 550025
2.
贵州医科大学附属医院感染科，贵阳 550025

基金项目:

国家自然科学基金 (82060123);

贵州省卫健委科技基金项目 (gzwjk2019-1-082)

伦理学声明：本例报告已获得患者知情同意。

利益冲突声明：所有作者均声明不存在利益冲突。

作者贡献声明：秦玉洁负责文章撰写；周文秀负责临床资料收集整理；周兴念负责研究数据的获取分析解释过程；程明亮、李宏负责拟定写作思路，指导撰写文章并最后定稿。

详细信息

通信作者:
李宏, 625062102@qq.com (ORCID: 0000-0003-0601-3198)

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出版历程
- 收稿日期: 2022-06-10
- 录用日期: 2022-07-28
- 出版日期: 2023-02-20

Report and genetic analysis of autoimmune liver diseases between mother and daughter

1.
Guizhou Medical University, Guiyang 550025, China
2.
Department of Infectious Diseases, Affiliated Hospital of Guizhou Medical University, Guiyang 550025, China

Research funding:

National Natural Science Foundation of China (82060123);

Project of Guizhou Province Health Commission Science and Technology (gzwjk2019-1-082)

More Information

Corresponding author: LI Hong, 625062102@qq.com (ORCID: 0000-0003-0601-3198)

摘要

- 原发性胆汁性胆管炎 /
- 突变 /
- 多态性, 单核苷酸
- Primary Biliary Cholangitis /
- Mutation /
- Polymorphism, Single Nucleotide

HTML全文

图 1 患者肝脏病理结果

注：a，HE染色，×100；b，Masson染色，×100；c，IgG染色，×100；d，IgG4染色，×100；e，CK7染色，×100；f，CK19染色，×100。

Figure 1. The pathology of patient's liver specimen

下载: 全尺寸图片幻灯片

图 2 患者女儿肝脏病理结果

注：a，HE染色，×100；b，Masson染色，×100；c，IgG染色，×100；d，IgG4染色，×100；e，CK7染色，×100；f，CK19染色，×100。

Figure 2. The pathology of patient daughter's liver specimen

下载: 全尺寸图片幻灯片

表 1 患者基因变异功能注释

Table 1. Functional annotation of genetic variants of patients

突变类型	女儿		母亲
突变类型	所有突变	通过QC过滤	所有突变	通过QC过滤
移码突变	236	205	236	210
剪接突变	165	150	168	151
停止突变	98	91	92	88
止损突变	15	13	14	11
错义突变	11089	10601	11073	10585
总突变	11603	11060	11583	11045

下载: 导出CSV

表 2 患者候选基因变异功能注释

Table 2. Functional annotation of candidate genetic variants of patients

突变类型	女儿	母亲
剪接突变	6	4
停止突变	7	11
止损突变	1	1
错义突变	284	277
总突变	298	293

下载: 导出CSV

表 3 患者共有变异基因的SNP位点及相应氨基酸变化

Table 3. SNP sites and corresponding amino acid changes of patients' shared variant genes

基因符号	SNP注释	染色体位置	外显子位置	碱基突变	氨基酸突变
GPSM2	rs141562079	chr1	Exon11	C1216T	R406W
CACNA1S	rs1465455126	chr1	Exon18	G2449T	A817S
CRYBA2	rs375552220	chr2	Exon4	T457C	Y153H
SLC7A14	rs2276717	chr3	Exon6	G988A	G330R
CA13	rs755805228	chr8	Exon7	G740A	R247H
NOTCH1	rs1396528813	chr9	Exon15	C2361G	N787K
PNPLA7	rs553960639	chr9	Exon29	G3248A	R1083H
IFT140	rs566450108	chr16	Exon21	G2758T	A920S
BEST2	rs773939596	chr19	Exon4	T320C	M107T

下载: 导出CSV

参考文献(16)

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