医学遗传学
适用课程: 医学遗传学(0232004910),医学遗传学实验(0233209520),医学遗传学(0233214712),分子遗传学(0233300810),医学遗传学(23093003),医学遗传学(sd02322810),医学遗传学(双语)(sd02322821),分子遗传学(sd02330570),医学遗传学(sd02332810),医学遗传学实验(sd02332830),医学遗传学实验(sd02332840),医学遗传学实验(双语)(sd02332851)【访问量:57445】

龚教授 

龚瑶琴博士

山东大学医学院教授、博士生导师

学习经历

1983 华中师范学院生物系学士

1985 山东医科大学医学遗传学硕士

2002 山东大学组织胚胎学博士

工作经历

1985-1993:山东医科大学 助教、讲师

1994-1995:美国哈佛医学院、西保留地大学医学院 访问学者

1995-1999:山东医科大学 副教授

1999-至今:山东大学医学院 教授

2003-2007:长江学者奖励计划特聘教授

主要研究兴趣

遗传病致病基因定位、克隆和功能研究;

神经系统遗传病发生的分子机制;

心血管疾病发生的分子机制

代表性论文

1. Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 2008 Dec;83(6):752-9.

2. 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; 80(3): 561-6.

3. 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, Jüppner 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;107(4):513-23.

4. 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; 21(3):302-4.

5. 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;64(2):570-7.

6. 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;59(1):146-51.