实验室负责人照片:

邬玲仟，女，江苏昆山人，医学遗传学博士，教授，妇产科主任医师，博士生导师。现任中南大学中国医学遗传学国家重点实验室副主任，中南大学湘雅医院产前诊断中心副主任，湘雅生殖医学中心副主任，国家生命科学与技术人才培养基地-基因科学与技术产业化点副主任。2005年3月起任日本国立长崎大学医学院邀请/访问教授。兼任中华医学会医学遗传学专业委员会常务委员、湖南省医学会医学遗传学专业委员会主任委员、中国优生优育协会委员。主要负责染色体病、基因病诊断、产前诊断和遗传咨询、胚胎干细胞、人类生殖医学和临床遗传学等科研教学工作。2003年至今，主持国家“十五”科技攻关计划课题1项，国家自然科学基金课题2项，负责或参加国家、部级重大科研计划和国际合作课题7项；获2005年度国家科技进步奖二等奖1项，省部级科技进步奖各2项；发表论文40余篇，其中SCI收录论文19篇。2004年5月精细定位“弥漫性光敏性汗孔角化症”致病基因位点；2004年作为主要负责人完成“角膜环状皮样瘤”致病基因PITX2的克隆；2005年发现了一个新的近端三体12p综合征并阐明染色体畸变的来源和发生机制；2007年4月在国际上率先定位“人类4型并指/趾”致病位点。

主要科研项目
• 染色体畸变及遗传学效应与疾病发生，国家“十五”科技攻关计划，2004-2006（第一负责人） 
• 人类断裂、易位热点的DNA序列特征研究，国家自然科学基金课题，2004.1-2004.12（第一负责人）
• 智力障碍相关基因的定位与克隆，国家自然科学基金课题，2006.1-2008.12（第一负责人）
• 染色体异常携带者的胚胎植入前与妊娠早期的分子遗传学诊断研究，中南大学科研基金项目，2003-2005，（第一负责人）
• 致残性疾病（如先天性耳聋等）的研究，国家重大基础研究（973）计划，2002.1-2006.12，（第二负责人）
• 中国人类染色体异常核型遗传资源的收集、保藏和利用，国家高技术发展计划（“863”计划），2004-2006（第二负责人）
• 遗传病家系收集、基因定位、基因克隆、基因功能研究和基因治疗，“长江学者”科学创新团队计划，2005-2007（参加）
• 中国人群遗传相关疾病资源库及共享信息平台，高等学校科技创新工程重大培育资金项目，2005-2006（参加）
• CREST, Japan Science and Technology Agency, Kawaguchi, Japan (participant)
• SORST, Japan Science and Technology Agency (JST), Kawaguchi, Japan (participant)

主要成果/奖励
• 世界首报中国人染色体异常核型遗传资源保藏及其B/S共享模式，2005年，中华人民共和国科学技术进步奖二等奖
• 脆性X综合征的遗传学研究，2003年，广东省科学技术进步奖三等奖
• 显微切割、探针池和FISH技术对染色体异常来源的研究，1996年，广东省科学技术进步奖三等奖

主要论文/著作 
Peer review publications (since 2004):
1. Zhou L, Wu LQ , Liang DS, Pan Q, Long ZG, Dai HP, Li J, Cai F, Xia K, Xia JH. Identification of the origin of marker chromosome by comparative genomic hybridization. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):264-7. Chinese.
2. Wu YL, Wu LQ , Li YP, Liu DE, Zeng Q, Zhu HY, Pan Q, Liang DS, Hu H, Long ZG, Li J, Dai HP, Xia K, Xia JH. Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):246-51. Chinese.
3. Hu LP, Liu NH, Pan Q, Liang DS, Long ZG, Hu H, Zhu HY, Dai HP, Cai F, Wu LQ , Xia K, Xia JH. Azoospermia factor microdeletion on Y chromosome in patients with idiopathic azoospermia or severe oligozoospermia. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2007 Apr;32(2):241-5. Chinese. 
4. Sato D*, Liang D*, Wu L , Pan Q, Xia K, Dai H, Wang H, Nishimura G, Yoshiura KI, Xia J, Niikawa N. A syndactyly type IV locus maps to 7q36. J Hum Genet. 2007 May 3; [Epub ahead of print] (correspondent)
5. Hu H*, Wu L*, Feng Y*, Pan Q, Long Z, Li J, Dai H, Xia K, Liang D, Niikawa N, Xia J. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. J Hum Genet. 2007 Apr 19; [Epub ahead of print] (*co-author) 
6. Liu X, Liu M, Xue Z, Pan Q, Wu L, Long Z, Xia K, Liang D, Xia J. Non-viral ex vivo transduction of human hepatocyte cells to express factor VIII using a human ribosomal DNA-targeting vector. J Thromb Haemost. 2007 Feb;5(2):347-51. Epub 2006 Dec 7.
7. Wang Lina, Xue Zhigang, Li Zhuo, Xue Jinfeng, Liu Xionghao, Pan Qian, Long Zhigao, Cai Fang, Wu Lingqian, Dai Heping, Xia Kun, Liang Desheng and Xia Jiahui. Investigation of hrDNA targeting vector-mediated tumor-specific suicide gene therapy for hepatocellular carcinoma.Chinese Science Bulletin 2006 Oct 5; 51(19): 2342-2350.
8. Zhu HY, Wu LQ , Pan Q, Liang DS, Long ZG, Dai HP, Xia K, Xia JH. Analysis of PAX6 gene in a Chinese aniridia family. Chin Med J (Engl). 2006 Aug 20; 119(16): 1400-2. (correspondent)
9. Zhu HY, Wu LQ , Pan Q, Tang BS, Liang DS, Long ZG, Dai HP, Xia K, Xia JH. Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography. Chin Med J (Engl). 2006 Jul 20; 119(14): 1222-5. (correspondent)
10. Zhu HY, Wu LQ , Liang DS, Pan Q, Xia JH. Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families. Yi Chuan Xue Bao. 2006 Mar;33(3):206-12. (correspondent)
11. Liang D, Wu L , Pan Q, Harada N, Long Z, Xia K, Yoshiura K, Dai H, Niikawa N, Cai F, Xia J. A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2. Am J Med Genet A. 2006 Feb 1; 140 (3):238-44. (correspondent)
12. XUE Zhigang*, LIANG Desheng*, LONG Zhigao, PAN Qian, LIU Xionghao, WU Lingqian, CAI Fang, DAI Heping, XIA Kun & XIA Jiahui. Silica nanoparticle is a possible safe carrier for gene therapy. Chinese Science Bulletin. 2005, 50 (1): 1-5. 
13. Hu H, Wu LQ , Liang DS, Feng Y, Cai F, Xia K, Pan Q, Long ZG, Dai HP, Xia JH. Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation. Zhonghua Fu Chan Ke Za Zhi. 2005 Sep;40(9):591-4. (correspondent)
14. Liu XH, Liu MJ, She H, Wen L, Xue ZG, Liang DS, Cai F, Pan Q, Long ZG, Wu LQ, Dai HP, Xia K, Xia JH. Targeted Expression of the Modified FVIII Using Targeting Vector of Human Ribosomal RNA Gene. Chinese Science Bulletin. 2005, 50(18):1972-1977. 
15. Liu XH, Liu MJ, She H, Wen L, Xue ZG, Liang DS, Cai F, Pan Q, Long ZG, Wu LQ, Dai HP, Xia K, Xia JH. Targeted Expression of the Modified FVIII Using Targeting Vector of Human Ribosomal RNA Gene. Chinese Science Bulletin. 2005, 50(18):1972-1977.
16. He LQ, Liu Y, Cai F, Tan ZP, Pan Q, Liang DS, Long ZG, Wu LQ, Huang LQ, Dai HP, Xia K, Xia JH, Zhang ZH. Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells. Acta Biochim Biophys Sin (Shanghai). 2005 Aug;37(8):547-54. 
17. Hu H, Liang D, Wu L, Feng Y, Cai F, Xia K, Pan Q, Long Z, Dai H, Xia J. [Molecular analysis of SLC26A4 gene in a Chinese deafness family.] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):376-9. Chinese.
18. He LQ, Cai F, Liu Y, Liu MJ, Tan ZP, Pan Q, Fang FY, Liang de S, Wu LQ, Long ZG, Dai HP, Xia K, Xia JH, Zhang ZH. Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways. Cell Res. 2005 Jun; 15(6): 455-64.
19. Deng XY, Cai F, Xia K, Pan Q, Long ZG, Wu LQ, Liang DS, et al. Identification of the Alternative Promoters of the KChIP4 Subfamily. Acta Biochim Biophys Sin (Shanghai). 2005 Apr;37(4):241-7.
20. Lyu QF, Wu LQ , Li YP, Pan Q, Liu DE, Xia K, Liang DS, Cai F, Long ZG, Dai HP, Xia JH. An improved mechanical technique for assisted hatching. Hum Reprod. 2005 Jun; 20(6):1619-23. Epub 2005 Apr 28. (correspondent)
21. Jiahui Xia, Kun Xia, Aifa Tang, Yong Feng, Desheng Liang, Junyi Zhang, Qian Pan, Zhigao,Long, Heping Dai, Fang Cai, Lingqian Wu, Suping Zhao, Zhuchu Chen. A Novel Fusion Suicide Gene Yeast CDglyTK plays a Role in Radio-genetherapy of Nasopharyngeal Carcinoma.Cancer Gene Therapy. Oct，2004，22 [Epub ahead of print]
22. HU Hao, WU Ling-qian , LIANG De-sheng, XIA Jiahui. Reseach progress in nonsyndromic sensorineural hearing loss associated genes. CHINESE JOURNAL OF OTORHINOLARYNGOLOGY HEAD AND NECK SURGERY. 2005 Vol.40 No.8 P.633-637. Chinese. (correspondent)
23. Baorong Zhang, Kun Xia, Meiping Ding, Desheng Liang, Meiping Ding, Zhirong Liu, Zhengmao Hu, Lingqian Wu,et al. Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27. 1 in a Chinese family. Human Genetics. 2004, 10.1007/s00439-004-1188-5.
24. Jiahui Xia, Kun Xia, Yong Feng,Aifa Tang, Yaoyun Tang, Linqiang Wu, Desheng Liang, Fang Cai, Qian Pan, Zhigao Long, Heping Dai, Yunyi Zhang, Suping Zhao, Zhuchu Chen. Combination of Suicide gene therapy and radiation enhances the killing of nasopharyngeal carcinoma xenographs. Journal of Radiation Research. 2004,45(2): 281-289.
25. De-sheng Liang, Wu LQ, et al. Analysis of chromosomes and its phenotype location on a patient with the karyotype of 45,XX,-13/46,XX,r(13)/46,XX,r(13;13)/47,XX,2r(13) (p13q32.3)，Chinese Journal of Medical Genetics. 2004,Vol21,No.4:392-394；
26. Wu LQ, Yang YF, Zheng D, Deng H, Pan Q, Zhao TL, Cai F, Feng Y, Long ZG, Dai HP, Tang BS, Yang YJ, Deng HX, Xia K, Xia JH. Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1 Br J Dermatol. 2004 May: 150(5):999-1004. (IF-2003:2.659)
27. Xia K, Wu LQ,Xi XH,Liu XP,Liang DS, Zheng D, Cai F, Pan Q, Long ZG, Dai HP,Hu ZM, Tang BS,Zang ZH, Xia JH. Mutation in PITX2 is associated with Ring Dermoid of the Cornea. Journal of Medical Genetics. 2004, 41:e130 
28. Xiong W, Zeng ZY, Xia JH, Xia K, Shen SR, Li XL, Hu DX, Tan C, Xiang JJ, Zhou J, Deng H, Fan SQ, Li WF, Wang R, Zhou M, Zhu SG, Lu HB, Qian J, Zhang BC, Wang JR, Ma J, Xiao BY, Huang H, Zhang QH, Zhou YH, Luo XM, Zhou HD, Yang YX, Dai HP, Feng GY, Pan Q, Wu LQ, He L, Li GY. A susceptibility locus at chromosome 3p21 linked to familial nasopharyngeal carcinoma. Cancer Res. 2004 Mar 15;64(6):1972-4.
29. Xia JH, Wu LQ. Prenatal diagnosis and genetic counseling. Zhonghua Fu Chan Ke Za Zhi. 2003 Aug;38(8):474-7. Chinese. 
30. Wen S, Wu LQ, Li Q. Diagnosis of several common alpha-thalassemia genotypes by multiplex fluorescence polymerase chain reaction. Hunan Yi Ke Da Xue Xue Bao. 2003 Apr;28(2):123-6. Chinese. PMID: 12934354 [PubMed - indexed for MEDLINE]
31. Wu LQ, et al. Genetic and Prenatal Diagnosis for Fragile X Syndrome. Genentics. 2003，25(2):123-128
32. Wu LQ, et al. Prenatal Genetic Diagnosis for α-Thalassemia. Journal of Practical Gynecology and Obstetrics. 2001, 17（6）：338-339

著作:
 《医学遗传学》，第5、10章，染色体病，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