随着我国社会发展和人民生活水平的提高，人类疾病谱发生了结构性的改变，遗传性疾病和出生缺陷发生比例逐年增高。据统计，我国人口中约有1/5～1/4患者有各种遗传病或与遗传有关的疾病。当前我国出生缺陷的发生率为4%～6%，每年约有80～100万缺陷儿童出生，给社会和家庭带来巨大负担。人们对于遗传咨询、遗传诊断和产前诊断及其它临床遗传服务的需求与日俱增。

临床遗传学面临的主要问题是遗传病与出生缺陷的成因复杂，涉及环境、遗传、表观遗传、营养、行为、母体内分泌和代谢等多方面因素，致畸因素的作用机制以及互作关系尚待深入解析。本研究方向拟针对遗传病、生殖健康和出生缺陷的关键核心科学问题进行研究，即主要的遗传变异，遗传变异及不良环境等协同发挥致畸作用的方式，选择采用有效集成方式针对关键病因和发病环节进行有效的人群干预。研究内容包括：

1、与临床医院合作，按照知情同意的原则，建立规范的调查登记表和相关样本采集流程，通过采集北方地区常见的严重遗传病与出生缺陷患者、家系个体及对照人群队列的血液（及组织样本），收集临床资料包括生化指标、影像学数据等，建立中国北方遗传病与出生缺陷遗传资源库。

2、采用全基因组测序、全外显子组测序、Array-CGH、FISH 及生物信息学等方法，筛选鉴定出新的遗传病及出生缺陷致病基因和致病性遗传变异及表观遗传学变异并在患者和人群队列中进行验证。

3、鉴定疾病发生的易感、致病位点，揭示遗传病与出生缺陷发生的遗传机制。

4、构建不同的致病基因或遗传变异出生缺陷动物模型，探究遗传因素异常导致出生缺陷的致病机制。

5、以此建立北方常见严重遗传病和出生缺陷的研究技术路线和方法，并通过一系列研究建立“中国人群出生缺陷致病遗传变异数据库”。

 

发表学术文章

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6. Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su, Guohua Ji, Peng Liu, Rongwei Guan, Jing Bai, Songbin Fu, Xianli Zhou, Wenjing Sun. Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease. Mol Genet Genomic Med. 2020 Nov;8(11):e1467.

7. Yusi Wang, Xueyuan Jia, Yuandong Qiao, Lidan Xu, Xuelong Zhang, Qiuyan Li, Ping Wang, Wenjing Sun and Jie Wu. Association Between Nonsyndromic Cleft Lip and Palate and 2 Polymorphic Loci: A Meta-Analysis. The Cleft Palate-Craniofacial Journal. 2020 Oct 7;1055665620962686.

8. Wang Y, Jia X, Qiao Y, Xu L, Zhang X, Li Q, Wang P, Sun W, Wu J*. Association Between Nonsyndromic Cleft Lip and Palate and 2 Polymorphic Loci: A Meta-analysis. Cleft Palate Craniofac J. 2021 Jun;58(6):763-772.

9. Wang Y, Hao X, Jia X, Ji W, Yuan S, Gnamey EJA, Huang M, Xu L, Zhang X, Bai J, Sun W, Fu S, Liu Y, Wu J. A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly. Mol Genet Genomic Med. 2022 Jul;10(7):e1968. Epub 2022 May 12.

10. Si S, Jia X, Xu L, Qin Q, Wu J, Ji W, Dong K, Zhang X, Cao L, Wang H, Liu P, Wang R, Bai J, Fu S, Huang Y, Sun W. Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1. Pigment Cell Melanoma Res. 2023 Nov;36(6):472-480. doi: 10.1111/pcmr.13111. Epub 2023 Jul 5. PMID: 37403904.

11. Min Huang, Rong Guan, Jiawei Qiu, Abla Judith Estelle Gnamey , Yusi Wang , Hai Tian , Haoran Sun , Hongbo Shi , Wenjing Sun , Xueyuan Jia , Jie Wu* . Identification of immune-related signatures and pathogenesis differences between thoracic aortic aneurysm patients with bicuspid versus tricuspid valves via weighted gene co-expression network analysis. Plos one. 2023 Oct 26;18(10):e0292673.

12. 朱思齐，刘晨，吴杰，贾学渊，孙文靖，傅松滨*.一例家族性腺瘤息肉病的临床特点及致病基因变异分析. 中华消化杂志.2019,39(12):873-876.

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17. 于函菲, 秦倩, 吴杰, 贾学渊, 计薇, 张学龙, 徐丽丹, 董科显, 关荣伟, 王浩, 孙文靖. 一个黏多糖贮积症Ⅱ型家系的IDS基因致病变异特征分析. 中华内分泌代谢杂志, 2023;39(4): 345-352.

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