梁德生

中南大学医学遗传学国家重点实验室副主任

梁德生，男，医学遗传学博士，二级教授，博士生导师，享受国务院政府特殊津贴专家。现任中南大学医学遗传学国家重点实验室副主任、国家生命科学与技术人才培养基地主任、中南大学湘雅医院产前诊断中心副主任。2005年3月至2008年3月任职日本国立长崎大学医学院邀请教授，2008年3月起受聘为日本北海道医疗大学客座教授。兼任东亚人类遗传学会联盟常务理事，中华预防医学会出生缺陷预防与控制专业委员会副主任委员兼遗传病学组组长、中国医药生物技术协会基因治疗分会常务委员、中华医学会医学遗传学分会委员、湖南省遗传学会副会长。主要负责基因治疗、临床遗传学、人类遗传资源的收集、保藏和共享以及主持“基地”学研产工作。

个人简介

2004年至今，主持国家“973”、“863”、支撑计划、科技基础性工作专项等计划课题和国家自然科学基金项目10项，主持或参加国际、国家和省部级重大科研计划课题9项；获国家科学技术进步奖二等奖1项，省部级科学技术进步奖4项；在Am J Med Genet, Nat Genet, PLoS One等杂志发表论文100余篇，其中SCI收录论文30余篇。

1月9日，第三届中国出生缺陷干预救助基金会科学技术奖颁奖典礼在京举行。梁德生教授荣获“杰出贡献奖”。梁德生教授在创建遗传病诊断与产前诊断新技术体系和基因编辑治疗研究方面作出了突出贡献。2013年以来，研发“基于二代测序的CNV检测技术（CNV-Seq）”、“单基因病无创产前诊断技术（cSMART）”和“扩展至108种染色体异常的无创产前检测技术（NIPT-Plus）”，并在全国推广应用，主要指标居国际领先水平。cSMART技术被美国临床化学学会誉为“分子诊断的革命性突破”，使严重遗传病产前筛查和诊断覆盖率从40%左右提高到80%以上。同时，自体干细胞基因编辑治疗研究也取得重要成果，其中“重型血友病A病人诱导多能干细胞基因原位修复治疗研究”获得法国国家血浆制品集团资助转化，代表我国遗传病基因治疗研究跟上国际前沿。

论文著作

主要论文

Peer review publications (since 2004):

1. Li Z, Liu J, Li H, Peng Y,Lv W, Long Z, Liang D, Wu L. Phenotypic expansion of the interstitial16p13.3 duplication: A case report and review of the literature. Gene.2013 Sep 12. [Epub ahead of print] (Correspondence)

2. Wu L, Liu J, Lv W, Wen J, XiaY, Liang D. An Xp21.3p11.4 duplication observed in a boy withintellectual deficiency and speech delay and his asymptomatic mother. Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):467-70. (Correspondence)

3. Hu Y, Liu X, Long P, Xiao D,Cun J, Li Z, Xue J, Wu Y, Luo S, Wu L, Liang D. Nonviral gene targetingat rDNA locus of human mesenchymal stem cells. Biomed Res Int.2013;2013:135189. Epub 2013 May 14. (Correspondence)

4. Liang D, Lv W, Wang H, Xu L, Liu J, Li H, Hu L,Peng Y, Wu L. Non-invasive prenatal testing of fetal whole chromosomeaneuploidy by massively parallel sequencing. Prenat Diagn. 2012 Jan 9.[Epub ahead of print]

5. Liu X,Wu Y, Li Z, Yang J, Xue J, Hu Y, Feng M, Niu W, Yang Q, Lei M, Xia J, Wu L, Liang D. Targeting of the HumanCoagulation Factor IX Gene at rDNA Locus of Human Embryonic Stem Cells.PLoS One. 2012;7(5):e37071. (Correspondence)

6. Liang D, Zhou Z, Meng D, Du J, Wen J, Niikawa N,Wu L. Three Patients with Wolf-Hirschhorn Syndrome Carrying a SatellitedChromosome 4p. Birth Defects Res A Clin Mol Teratol.2012 Jul; 94(7):549-52.

7. Xue J, Peng J, Zhou M, Zhong L, Yin F, Liang D, Wu L. Novel compound heterozygous mutation of MLYCD in a Chinese patient withmalonic aciduria. Mol Genet Metabo 2012Jan;105(1):79-83.

8. Hu Y,Liu X, Xiao D, Gao T, Feng M, Li Z, Xue J, Pan Q, Wu L, Liang D. Improved gene targeting at the human rDNA locus stimulatedby Zinc finger nucleases. Mol Ther (2011) 19(S1):S267. (Correspondence)

9. PengJ, Wu L, Liu X, Liang D.Nonviral-mediated Endostatin Delivery Results in Inhibition of FibrosarcomaGrowth. Mol Ther (2011) 19(S1):S267-268. (Correspondence)

10. HannibalMC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI,Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N,Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, HouJW, Ohta T, Liang D, Sudo A, MorrisCA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH,Donnai D, Niikawa N, Shendure J, Bamshad MJ. Spectrum of MLL2 (ALR) mutationsin 110 cases of Kabuki syndrome. Am J Med Genet A. 2011Jul;155(7):1511-6.

11. Wu L, Liao X, Wang H, Zhou Z, Lv W, Liang D. A Patient with Apparently Reciprocal Translocation andCryptic 10p Deletion. Am J Med Genet A (2011) 155(7):1753-5. (Correspondence)

12. Hu J, Liang D, Xue J, Liu J, Wu L. Anovel GPR143 splicing mutation in a Chinese family with X-linked congenitalnystagmus. Mol Vis (2011) 17:715-22. (Co-author).

13. Wu L,Meng D, Zhou Z, Du J, Long Z, Liang D.A Family with Partial Duplication/Deletion 4p Due to a Balanced t (4; 15)(p16.2; p11.2) Translocation. Am J Med Genet A (2011) 155A(3):656-9. (Correspondence)

14. Liao X,Liang D, Li Y, Xi H, Quan Y,Wu L. Mutation analysis of the SRY, NR5A1 and DHH genes in six Chinese 46,XYwomen. J Matern Fetal Neonatal Med (2011) 24(6):863-6. (Co-author).

15. ShenJD, Liang DS, Zhou ZM, Xia Y, LongZG, Wu LQ. Pallister-Killian Syndrome: meiosis II non-disjunction may be thefirst step in the formation of isochromosome 12p. Chin Med J (Engl). 2010December 5; 123(23):3482-3485. (Co-author)

16. GrossmannV, Höckner M, Karmous-Benailly H, LiangD, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A,Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. Parental Origin ofApparently Balanced De Novo Complex Chromosomal Rearrangements Investigated byMicrodissection, Whole Genome Amplification, and Microsatellite MediatedHaplotype Analysis. Clin Genet 2010 Dec; 78(6): 548-553.

17. YangJ, Liu X, Yu J, Sheng L, Shi Y, Li Z, Hu Y, Xue J, Wu L, Liang Y, Xia J, and Liang D*. A non-viral vector forpotential DMD gene therapy study by targeting a minidystrophin-GFP fusion geneinto the hrDNA locus. Acta Biochim Biophys Sin 2009, 41(12):1053–1060. (Correspondence)

18. XueJF, Liu XH, He Q, Xue ZG, Hu YJ, Li Z, Yang JL, Gao T, Pan Q, Long ZG, Wu LQ, XiaK, Liang DS, Xia JH. In vitroEfficacy of mda-7 Gene for Hepatocellular Carcinoma Gene Therapy Mediated byHuman Ribosomal DNA Targeting Vector*. Prog Biochem Biophys 2009, 36(11):1429~1435. (Correspondence)

19. Shi Y,Liu XH, Liang DS, Feng M, Wu LQ, YangJL, Li Z, Zhao K, Pan Q, Long ZG, Xia JH. The Transfection EfficiencyImprovement of hrDNA Targeting Vectors with NLS Peptide. Prog Biochem Biophys2009; 36(10): 1283-1290. (Correspondence)

20. Wu L, Liang D, Niikawa N, Ma F, Sun M, Pan Q,Long Z, Zhou Z, Yoshiura KI, Wang H, Sato D, Nishimura G, Dai H, Zhang X, XiaJ. A ZRS duplication causes syndactyly type IV with tibial hypoplasia. Am JMed Genet A. 2009 Mar 16;149A(4):816-818. (Co-author)

21. Wu L, Long Z, LiangD, Harada N, Pan Q, Yoshiura KI, Xia K, Dai H, Niikawa N, Xia J. Pre- andpostnatal overgrowth in a patient with proximal 4p deletion. Am JMed Genet A. 2008 Mar 15; 146A(6):791-4. (Correspondence)

22. Wen L, Liang de S,Wu LQ, Cai F, Pan Q, Long ZG, Dai HP, Xia K, Xia JH.Efficient proteinexpression from the endogenous RNA polymerase I promoter using a humanribosomal DNA targeting vector. Biochem Biophys Res Commun. 2008 Mar21; 367(4):846-51.

23. Xue ZG, Li J, Yin B, Zhang YK, Liu XH, Pan Q, Long ZG,Dai HP, Xia K, Wu LQ, Liang DS, XiaJH. p53 Anti-tumor Research inBel-7402 by Using Human-derived Vector. Prog Biochem Biophys 2007; 34(5):465-470. (Correspondence)

24. Sato D, Liang D,Wu L, Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura K, Xia J, Niikawa N.(2007) A syndactyly type IV locus maps to 7q36. J Hum Genet. 52(6):561-4. (Co-author)

25. Hu H，Wu L，Feng Y，Pan Q，Long Z，Li J，Dai H，Xia K，Liang D，Niikawa N，Xia J. (2007)Molecular analysis of hearing loss associated with enlarged vestibular aqueductin the mainland Chinese:a unique SLC26A4 mutation spectrum. J Hum Genet. 52(6):492-7. (Correspondence)

26. Liu X, Liu M, Xue Z, PanQ, Wu L, Long Z, Xia K, Liang D, XiaJ. Non-viral ex vivo transduction of human hepatocyte cells to express factorVIII using a human ribosomal DNA-targeting vector. J Thromb Hoemost. 2007 Feb; 5(2):347-51. (Correspondence)

27. WANG L*, XUE Z*, LI Z, XUE J, LIU X, PAN Q, LONG Z, CAIF, WU L, DAI H, XIA K, LIANG D &XIA J. (2006) Investigation of hrDNA targeting vector-mediated tumor-specificsuicide gene therapy for hepatocellular carcinoma, Chinese Sci Bull,51(19):2342-2350. (Correspondence)

28. Yoshiura K, Kinoshita A, Ishida T, Ninokata A, IshikawaT, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA,Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N,Mapendano CK, Ghadami M, Nomura M, LiangDS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A,Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, MurrayJC, Saito S, Nakamura Y, Niikawa N. A SNP in the ABCC11 gene is the determinantof human earwax type. Nat Genet. 2006 Mar; 38(3):324-30.

29. Liang D, Wu L, Pan Q, HaradaN, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J. A father and sonwith mental retardation, a characteristic face, inv(12), and insertion trisomy12p12.3-p11.2. Am J Med Genet A. 2006 Feb 1;140(3):238-44.

30. Zhang R, Zhu Z, Zhu H, Nguyen T, Yao F, Xia K, Liang D and Liu C. SNP Cutter: acomprehensive tool for SNP PCR–RFLP assay design, Nucleic Acids Res, 2005, Vol.33,Web Server issue W489–W492.

31. Lyu QF, Wu LQ, Li YP, Pan Q, Liu DE, Xia K, Liang DS, Cai F, Long ZG,Dai HP, XiaJH. An improved mechanical technique for assisted hatching. HumReprod, 2005 Apr 28; 20(6):1619-1623.

32. XUE Z, LIANG D, LONG Z, PAN Q, LIU X,WU L, CAI F, DAI H, XIA K & XIA J. Silica nanoparticle is a possible safecarrier for gene therapy. Chinese Sci Bull, 2005, 50(20): 2323-2327. (Co-author)

33. Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, ZhangZ, Xia J. (2004) Mutation in PITX2 is Associated with Ring Dermoid of theCornea. J Med Genet 41(12):e129.

34. Xia K, Liang D,Tang A, Feng Y, Zhang J, Pan Q, Long Z, Dai H, Cai F, Wu L, Zhao S, Chen Z, XiaJ. (2004) A Novel Fusion Suicide Gene Yeast CDglyTK plays a Role inRadio-genetherapy of Nasopharyngeal Carcinoma. Cancer Gene Ther,11(12):790-6.

著作

1. 《医学遗传学》，第6、12章，全国医药卫生高等院校研究生规划教材，2004年，人民卫生出版社

2. 《实用产前诊断学》，参编，全国产前诊断培训教材，2008年，人民军医出版社

3. 《精编人类遗传学实验指南》，参编，2009年，科学出版社

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