实验室负责人照片:

龚瑶琴 山东大学实验畸形学教育部重点实验室主任

龚瑶琴，女，1961年11月出生，博士生导师。1982年毕业于华中师范学院生物系， 1985年山东医科大学医学遗传学专业研究生毕业留校任教。主要从事遗传病致病基因定位、克隆和功能研究工作。1994年3月赴美国哈佛医学院学习，95年底回国工作。现任实验畸形学教育部重点实验室主任、山东大学医学院常务副院长、山东大学医学院医学遗传学研究所所长。国家杰出青年基金获得者、"长江学者奖励计划"第五批特聘教授、山东省十大杰出青年、山东省十大杰出留学归国科技专家、山东省十佳杰出中青年科技专家，享受国家政府特殊津贴。

发表的主要学术论文：

1. Li J, Liu Q, Wang P, Li H, Wei C, Guo C, Gong Y.Lack of association between
   three promoter polymorphisms of PTGDR gene and asthma in a Chinese Han
   population.Int J Immunogenet. 2007 Oct;34(5):353-7. [Medline Link]
2. Liu Q, Shang L, Li J, Wang P, Li H, Wei C, Gong Y.A Functional Polymorphism in
   the TIM-1 Gene Is Associated with Asthma in a Chinese Han Population.
   Int Arch Allergy Immunol. 2007 Jun 15;144(3):197-202[Medline Link]
3. Zhu G, Ke X, Liu Q, Li J, Chen B, Shao C, Gong Y.Recurrence of the D100N
   mutation in a Chinese family with brachydactyly type A1: evidence for a mutational
   hot spot in the Indian hedgehog gene.Am J Med Genet A. 2007 Jun 1;143(11):1246-8.[Medline Link]
4. Zou Y, Liu Q, Chen B, Zhang X, Guo C, Zhou H, Li J, Gao G, Guo Y, Yan C, Wei J, Shao C, Gong Y.
   Mutation in CUL4B, Which Encodes a Member of Cullin-RING Ubiquitin Ligase Complex, Causes X-Linked Mental Retardation.
   Am J Hum Genet 2007 Mar; 80(3): 561-6.[Medline Link]
5. Li JS, Liu QJ, Wang P, Li HC, Wei CH, Guo CH, Gong YQ.
   Absence of association between two insertion/deletion coding genetic polymorphisms of TIM-1 gene and asthma in Chinese Han population.
   Int J Immunogenet. 2006 Dec; 33(6):417–22.[Medline Link]
6. Wang P, Liu QJ, Li JS, Li HC, Wei CH, Guo CH, Gong YQ.
   Lack of association between ADAM33 gene and asthma in a Chinese population.
   Int J Immunogenet. 2006 Aug; 33(4):303-6.[Medline Link]
7. Rhee DK, Marcelino J, Baker M, Gong Y, Smits P, Lefebvre V, Jay GD, Stewart M, Wang H, Warman ML, Carpten JD.
   The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth.
   J Clin Invest. 2005 Mar; 115(3):622-31.[Medline Link]
8. Kutz WE, Gong Y, Warman ML.
   WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice.
   Mol Cell Biol. 2005 Jan; 25(1):414-21.[Medline Link]
9. 吕萍，龚瑶琴，李江夏，周海斌，陈丙玺.
   小鼠Lrp5基因启动子的克隆及功能分析.
   中国生物化学与分子生物学报2005; 21(1):72-7.
10. 刘奇迹,龚瑶琴,张锡宇,高贵敏,李江夏,郭亦寿.
    X染色体上五个多态位点筛选及其多态性分析.
    中华医学遗传学杂志2005; 22(1): 54-7.
11. Zhang X, Liu Q, Chen B, Guo C, Li J, Gao G, Guo Y, Gong Y.
    A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3.
    Am J Med Genet A. 2004 Sep; 129(3):286-9.[Medline Link]
12. 刘奇迹,龚瑶琴,李江夏,张锡宇,高贵敏,郭亦寿.
    Smith-Fineman-Myers综合征的精细定位及侯选基因分析.
    中华医学遗传学杂志2004; 21（3）:198-202.
13. 刘奇迹,龚瑶琴,张锡宇,高贵敏,郭亦寿.
    SMARCA1基因组结构鉴定及其在Smith-Fineman-Myers综合征家系中的突变分析.
    遗传学报 2004;31 (2) : 114-8.
14. Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W.
    Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
    Am J Hum Genet. 2003 Mar; 72(3):763-71.[Medline Link]
15. Lu Y, Guo C,Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y,Gong Y.
    A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.
    Am J Med Genet A. 2003 Jul; 120(3):345-9.[Medline Link]
16. 龚瑶琴,李江夏,刘奇迹,陈丙玺,郭辰虹,高贵敏.
    纯合子定位法在骨质疏松-假性神经胶质瘤综合征精确定位中的应用.
    中华医学遗传学杂志 2003; 20（1）:53-5.
17. 程琳,龚瑶琴,刘奇迹,陈丙玺,郭辰虹,李江夏,张锡宇,卢勇,高贵敏,周海斌,郭亦寿.
    非综合征性耳聋一家系的基因定位.
    中华医学遗传学杂志 2003; 20（2）: 89-93.
18. 李江夏,龚瑶琴,刘奇迹,陈丙玺,郭辰虹,郭亦寿.
    低密度脂蛋白受体相关蛋白5基因的基因组结构.
    中华医学遗传学杂志 2002; 19（6）:467-70.
19. 刘奇迹,龚瑶琴,郭辰虹,陈丙玺,李江夏,郭亦寿.
    XNP基因内多态基因座筛选及其多态性分析.
    遗传学报 2002; 29（3）：201-5.
20. 刘奇迹,龚瑶琴,陈丙玺,郭辰虹,李江夏,郭亦寿.
    SMITH-FINEMAN-MYERS综合征与X连锁核蛋白基因的连锁分析.
    中华医学遗传学杂志 2002;19（1）：22-5.
21. 刘奇迹，龚瑶琴，陈丙玺，郭辰虹，李江夏，郭亦寿.
    Smith-Fineman-Myers综合征与GRIA3基因的连锁和突变分析.
    遗传学报2001; 28（11）: 985-90.
22. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML;
    Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
    Cell. 2001 Nov 16; 107(4):513-23.[Medline Link]
23. Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML.
    Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
    Nat Genet. 1999 Mar; 21(3):302-4.[Medline Link]
24. Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.
    Am J Hum Genet. 1999 Feb; 64(2):570-7.[Medline Link]
25. Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
    Am J Hum Genet. 1996 Jul; 59(1):146-51.[Medline Link]