学术任职

福建省医学会医学遗传学分会青年委员会，副主任委员

厦门医师协会医学遗传医师分会，委员兼总干事

研究领域

本课题组致力于临床遗传病的咨询、筛查诊断与致病机制研究。在Clinical Chemistry, Fertility and Sterility, Journal of Molecular Diagnostics, Journal of Genetics and Genomics等国际学术期刊上发表系列研究论文，发展了多项分子诊断技术应用于染色体非整倍体、Y染色体微缺失、脆性X综合征、脊髓性肌萎缩等疾病的临床筛查与诊断；利用细胞分子生物学等相关技术进行致病机制研究，为临床罕见遗传病（如原发性辅酶Q10缺乏症等）患者提供诊断、遗传咨询及出生缺陷干预等措施。

目前研究方向包括：

1. 基于纳米孔测序平台的遗传病筛查诊断技术开发与应用；

2. 基于XXY模式小鼠的Klinefelter综合征致病机制研究；

3. 自身免疫导致的复发流产机制研究。

学习经历

2005~2008，厦门大学生化与分子生物学专业，理学硕士；

2001~2005，厦门大学生物技术专业，理学学士。

工作经历

2020~至今，纽约国际手机登录，副教授；

2008~至今，厦门大学附属妇女儿童医院，历任技师、主管技师、副主任技师。

代表性成果

1. Xie J, Jiang J, Guo Q*. Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment. Frontiers in Genetics. 2022;12:776807.

2. Guo Q*, Chang Y, Huang C, Hsiao Y, Hsiao Y, Chiu Y, Zhou Y, Zhang H, Ko T*.  Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations. Journal of Genetics and Genomics. 2021;48(12):1104-1110.

3. Wang X, Xia Z, He Y, Zhou X, Zhang H, Gao C, Ge Y, Cai X, Zhou Y*, Guo Q*. Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations. Frontiers in Genetics. 2021;12:718503.

4. Zhou Y, Xu W, Jiang Y, Xia Z, Zhang H, Chen X, Wang Z, Ge Y, Guo Q*. Clinical utility of a high-resolution melting test for screening numerical chromosomal abnormalities in recurrent pregnancy loss. The Journal of Molecular Diagnostics. 2020; 22:523-531.

5. Lu M, Zhou Y, Wang Z, Xia Z, Ren J*, Guo Q*. Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. Journal of Human Genetics. 2019; 64(4):297-304.

6. Xia Z, Zhou Y, Fu D, Wang Z, Ge Y, Ren J*, Guo Q*. Carrier screening for spinal muscular atrophy with a simple test based on melting analysis. Journal of Human Genetics. 2019; 64(5):387-396.

7. Fu D, Zhou Y, Zhao J, Hu P, Xu Z, Lv S, Hu J, Xia Z, Guo Q*. Rapid screening for Klinefelter syndrome with a single high-resolution melting test: a multicenter study. Asian Journal of Andrology. 2018; 20(4):349-354.

8. Guo Q, Xiao L, Zhou Y. Rapid diagnosis of aneuploidy by high-resolution melting analysis of segmental duplications. Clinical Chemistry. 2012; 58:1019-25.

9. Guo Q, Lan F, Xu L, Jiang Y, Xiao L, Huang H, Zhou Y. Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions. Fertility and Sterility. 2012; 97:864-9.

10. Guo Q, Zhou Y, Wang X, Li Q. Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR. Clinical Chemistry. 2010; 56:1451-9.

主持课题

1. 国家自然科学基金面上项目。基于纳米孔测序的脆性X综合征携带者筛查新技术构建与临床应用研究。项目编号：82071662。起止年月：2021.1-2024.12。

2. 国家自然科学基金青年项目。非梗阻性无精少精症主要遗传因素的快速检测新方法研究。项目编号：81201361。起止年月：2013.1-2015.12。

3. 福建省自然科学基金杰青项目。基于实时荧光PCR平台的男性不育遗传因素检测体系的构建。项目编号：2015D012。起止年月：2015.01-2017.12。

4. 福建省自然科学基金面上项目。性染色体数目异常综合征早期人群筛查的研究。项目编号：2014D003。起止年月：2014.7-2017.6。

5. 福建省医药卫生科技创新项目。孕妇外周血浆中妊娠期糖尿病相关lncRNA的筛选与鉴定。项目编号：2014-CXB-46。起止年月：2015.1-2017.12。

6. 福建省卫生厅青年科研课题。β-地中海贫血症的无创产前诊断研究。项目编号：2010-2-111。起止年月：2010.5-2013.4。

获奖及荣誉

1. 厦门市第二批青年创新创业人才。

2. 2018年中国出生缺陷干预救助基金会科学技术二等奖。

3. 2015年中国妇幼健康科学技术三等奖。

4. 2015年福建省科技进步三等奖。

5. 2015年厦门市医学创新奖。

6. 2014年厦门市科技进步二等奖。

7. 2013年厦门市科技进步二等奖。

8. 2013年福建省医学科技三等奖。

所有论文列表

1. Jiang J, Zhou X, Gao C, Ke R*, Guo Q*. Two modified density gradient centrifugation methods facilitate the isolation of mouse Leydig cells. Preparative Biochemistry and Biotechnology. 2022 (in press).

2. Xia Z, Wang X, Ye H, Gao C, Zhou X, Chen J, Ge Y, Li J, Zhou Y*, Guo Q*. Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China. Frontiers in Genetics. 2022; 13:825345    

3. Wang J, Chen Z, He F, Lee T, Cai W, Chen W, Miao N, Zeng Z, Hussain G, Yang Q, Guo Q*, Sun T*. Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18. Frontiers in Cell and Developmental Biology. 2022;10:825345.

4. Xie J, Jiang J, Guo Q*. Primary Coenzyme Q10 Deficiency-7 and Pathogenic COQ4 Variants: Clinical Presentation, Biochemical Analyses, and Treatment. Frontiers in Genetics. 2022;12:776807.

5. Zhang H, Zhou Y, Xu W, Chen X, Jiang J, Zhou X, Wang Z, Ke R, Guo Q*. Polymerase chain reaction-based assays facilitate the breeding and study of mouse models of Klinefelter syndrome. Asian Journal of Andrology. 2022;24(1):102-108.

6. Guo Q*, Chang Y, Huang C, Hsiao Y, Hsiao Y, Chiu Y, Zhou Y, Zhang H, Ko T*. Population-based carrier screening and prenatal diagnosis of fragile X syndrome in East Asian populations. Journal of Genetics and Genomics. 2021;48(12):1104-1110.

7. Ren J, Wang X, Zhou Y, Yue X, Chen S, Ding X, Zeng S, Jiang X, Liu X, Guo Q*. A novel SERPINE1-FOSB fusion gene in pseudomyogenic hemangioendothelioma results in activation of intact FOSB and the PI3K-AKT-mTOR signaling pathway and responsiveness to sirolimus. Journal of Dermatology. 2021;48(12):1900-1906.

8. Wang X, Xia Z, He Y, Zhou X, Zhang H, Gao C, Ge Y, Cai X, Zhou Y*, Guo Q*. Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations. Frontiers in Genetics. 2021;12:718503.

9. Chen J, Xia Z, Zhou Y, Ma X, Wang X*, Guo Q*. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome. BMC Medical Genomics. 2021; 14(1):68.

10. Jiang Y, Zhang J, Wu L, Wang W, Guo Q*. Evaluation of interpretation methods to improve accuracy of the prenatal BACs-on-Beads™ assay in prenatal diagnosis. Experimental and Therapeutic Medicine. 2021; 21(2):121.

11. Zhou Y, Xu W, Jiang Y, Xia Z, Zhang H, Chen X, Wang Z, Ge Y, Guo Q*. Clinical utility of a high-resolution melting test for screening numerical chromosomal abnormalities in recurrent pregnancy loss. The Journal of Molecular Diagnostics. 2020; 22:523-531.

12. Lu M, Zhou Y, Wang Z, Xia Z, Ren J*, Guo Q*. Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. Journal of Human Genetics. 2019; 64(4):297-304.

13. Ye G, Han D, Jiang Y, Wang Z, Zhou Y, Lin X, Chen W, Chen M, Xu J, Yang Y, Guo Q*. A novel PHOX2B c.676-677 G ins. mutation in congenital central hypoventilation syndrome. Journal of Clinical Sleep Medicine. 2019; 15(3):509–513.

14. Xia Z, Zhou Y, Fu D, Wang Z, Ge Y, Ren J*, Guo Q*. Carrier screening for spinal muscular atrophy with a simple test based on melting analysis. Journal of Human Genetics. 2019; 64(5):387-396.

15. Fu D, Zhou Y, Zhao J, Hu P, Xu Z, Lv S, Hu J, Xia Z, Guo Q*. Rapid screening for Klinefelter syndrome with a single high-resolution melting test：a multicenter study. Asian Journal of Andrology. 2018; 20(4):349-354.

16. Zhou Y, Xia Z, Ge Y, Jiang F, Yuan Y, Guo Q*. A discordant case in which T21 positive and 47,XXY negative noninvasive prenatal testing result was associated with a 47,XXY mosaic fetus. Clinical and Experimental Obstetrics & Gynecology. 2018; 6:963-964.

17. Wang Z, Zhou Y, Ren J, Xia Z, Guo Q*. Evaluation of a Magnetic Cellulose-Based DNA Extraction System to Improve the Performance of HybriBio Human Papillomavirus Genotyping and Screening Tests for Cervical Swab Samples. Clinical Laboratory. 2017; 63(10):1647-1655. 

18. Wang Z, Zhou Y, Yang R, Xia Z, Zeng H, Du L, Ren J*, Guo Q*. Whole Exome Sequencing Identifies a c.C2566T Mutation in the Androgen Receptor in a Chinese Family. Clinical Laboratory. 2017;63(9):1533-1539. 

19. Chen J, Ma X, Zhou Y, Li G*, Guo Q*. Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report. BMC Pediatrics. 2017;17(1):175. 

20. Zhou Y, Ge Y, Xiao L, Guo Q*. Rapid and simultaneous screening of 47,XXY and AZF microdeletions by quadruplex real-time polymerase chain reaction. Reproductive Biology. 2015; 15:113-21.

21. Zhou Y, Xiao L, Wu Q, Zhang K, Guo Q*. Rapid prenatal diagnosis of common numerical chromosomal abnormalities by high-resolution melting analysis of segmental duplications. Genetic Testing and Molecular Biomarkers 2014; 18:141-8.

22. Guo Q, Xiao L, Zhou Y. Rapid diagnosis of aneuploidy by high-resolution melting analysis of segmental duplications. Clinical Chemistry. 2012; 58:1019-25.

23. Guo Q, Lan F, Xu L, Jiang Y, Xiao L, Huang H, Zhou Y. Quadruplex real-time polymerase chain reaction assay for molecular diagnosis of Y-chromosomal microdeletions. Fertility and Sterility. 2012; 97:864-9.

24. Guo Q, Zhou Y, Wang X, Li Q. Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification-based real-time PCR.Clinical Chemistry. 2010; 56:1451-9.