肝豆状核变性家系全基因组分析1例报告

胡亚欣; 程卓; 丛硕; 刘咏梅; 张宝芳; 雷榆; 严昭; 张懿炜; 蒲茜; 余蕾; 程明亮

doi:10.3969/j.issn.1001-5256.2022.07.029

肝豆状核变性家系全基因组分析1例报告

DOI: 10.3969/j.issn.1001-5256.2022.07.029

胡亚欣^1a,
程卓²,
丛硕^1b,
刘咏梅^1c,
张宝芳^1d,
雷榆^1a,
严昭³,
张懿炜³,
蒲茜⁴,
余蕾⁴,
程明亮^1d, , ,

1a.
贵州医科大学附属医院产前诊断中心，贵阳 550004
1b.
贵州医科大学附属医院输血科，贵阳 550004
1c.
贵州医科大学附属医院检验科，贵阳 550004
1d.
贵州医科大学附属医院感染科，贵阳 550004
2.
北京大学第三医院消化科，北京 100191
3.
贵州医科大学研究生院, 贵阳 550004
4.
贵阳市妇幼保健院，贵阳 550004

基金项目:

国家自然科学基金 (81760116);

贵州省中管局项目 (QZYY-2018-016)

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：胡亚欣、余蕾对研究的思路或设计有关键贡献；张宝芳、程卓、丛硕、刘咏梅、雷榆、蒲茜、严昭、张懿炜负责研究数据的获取分析；胡亚欣、程卓参与起草和修改文章关键内容；程明亮负责审核并最终定稿。

详细信息

通信作者:
程明亮，ming-liangcheng@21cn.com

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- 被引次数: 0
出版历程
- 收稿日期: 2021-07-29
- 录用日期: 2021-11-10
- 出版日期: 2022-07-20

Whole genome analysis of a Wilson's disease family

Yaxin HU^1a,
Zhuo CHENG²,
Shuo CONG^1b,
Yongmei LIU^1c,
Baofang ZHANG^1d,
Yu LEI^1a,
Zhao YAN³,
Yiwei ZHANG³,
Xi PU⁴,
Lei YU⁴,
Mingliang CHENG^{1d
, ,
,}

1a.
Prenatal Diagnostic Center, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
1b.
Department of Blood Transfusion, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
1c.
Clinical Laboratory, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
1d.
Department of Infectious Diseases, Affiliated Hospital of Guizhou Medical University, Guiyang 550004, China
2.
Department of Gastroenterology and Hepatology, Peking University Third Hospital, Beijing 100191, China
3.
Graduate School of Guizhou Medical University, Guiyang 550004, China
4.
Guiyang Maternal and Child Health Care Hospital, Guiyang 550004, China

Research funding:

National Natural Science Foundation of China (81760116);

Project of Guizhou Provincial Administration of Traditional Chinese Medicine (QZYY-2018-016)

More Information

Corresponding author: CHENG Mingliang, ming-liangcheng@21cn.com(ORCID: 0000-0001-6962-4012)

摘要

- 肝豆状核变性 /
- 全基因组关联研究 /
- 系谱 /
- 突变
- Hepatolenticular Degeneration /
- Genome-Wide Association Study /
- Pedigree /
- Mutation

HTML全文

图 1 患者家族系谱图

Figure 1. Family tree of the patient with Wilson's disease

下载: 全尺寸图片幻灯片

图 2 基于SNP位点的GO分析

注：a，先证者妹妹的基因突变富集的GO分子功能分析；b，先证者基因突变富集的GO分子功能。

Figure 2. GO analysis based on SNP

下载: 全尺寸图片幻灯片

图 3 ATP7B结构及患者突变所在位置

Figure 3. ATP7B structure and mutation location of patients

下载: 全尺寸图片幻灯片

参考文献(21)

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