徐湘民

学术任职

中华医学会医学遗传学分会候任主任委员, 中国遗传学会人类与医学遗传学分会副主任委员, 中国遗传学会生物产业促进委员会副主任委员, 广东省医学会医学遗传学分会前任主任委员, 国家自然科学基金委员会医学科学部评审专家, 《遗传》杂志副主编和《International Journal of Hematology Research》杂志编委, 以及Plos Genet, Haematologica, Clin Chem, J Hum Genet, Clin Chem Lab Med, Community Genet和《中华医学杂志》等国内外专业杂志同行评阅人。

科研成果

主要研究方向为人类遗传病的分子基础和基因诊断, 特别在遗传性血红蛋白病的分子机制、遗传流行病学、以及分子诊断技术的研究和应用上有深厚积累, 在孟德尔遗传病的遗传检测、实验室管理和遗传咨询方面有丰富的临床经验。主编二部专著—《临床遗传咨询》和《地中海贫血预防控制操作指南》, 在国内外发表包括 Blood, Clin Chem, J Am Chem Soc, J Med Genet, Haematologica, Hum Mutat, Br J Haematol, Hum Genet, Eur J Hum Genet, Clin Genet, J Mol Diagn和Pren Diagn等杂志在内的研究论文175篇。

文献发表

Development of a capillary zone electrophoresis method for rapid determination of human globin chains in α and β-thalassemia subjects.
Blood Cells Mol Dis. 2015 Jun;55(1):62-7. doi: 10.1016/j.bcmd.2015.03.003. Epub 2015 Mar 26.
 
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
BMC Musculoskelet Disord. 2015 Feb 7;16:11. doi: 10.1186/s12891-015-0457-x.
 
DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.
Blood Cells Mol Dis. 2014 Dec;53(4):241-5. doi: 10.1016/j.bcmd.2014.06.001. Epub 2014 Jun 21.
 
A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.
Gene. 2013 Jul 25;524(2):377-80. doi: 10.1016/j.gene.2013.03.143. Epub 2013 Apr 25.
 
Rapid simultaneous genotyping of polymorphisms in ADH1B and ALDH2 using high resolution melting assay.
Clin Chem Lab Med. 2013 May;51(5):e75-7. No abstract available.
 
A quantitative assay to detect α-thalassemia deletions and triplications using multiplex nested real-time quantitative polymerase chain reaction.
Anal Biochem. 2012 Aug 15;427(2):144-50. doi: 10.1016/j.ab.2012.05.009. Epub 2012 May 19.
 
[Prenatal diagnosis for thalassemias].
Zhonghua Fu Chan Ke Za Zhi. 2012 Feb;47(2):81-4. Chinese. No abstract available.
 
Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family.
Hemoglobin. 2010;34(4):343-53. doi: 10.3109/03630269.2010.486357.