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X连锁非特异性精神发育迟滞相关基因功能研究进展 被引量:5

Progress of Functional Study on MRX Related Genes
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摘要 X连锁非特异性精神发育迟滞相关基因是一类目前研究较多的基因,其突变或缺失患者仅具有一般或特殊认知功能障碍的单纯表现型。从生物学功能和认知功能两方面研究X连锁非特异性精神发育迟滞相关基因,不仅对弄清非特异性精神发育迟滞的遗传基础有重要意义,而且还能开拓出研究人类认知功能的分子遗传机理的新领域。文章就目前对X连锁非特异性精神发育迟滞相关基因的生物学功能和认知功能的研究现状,及该研究方向的发展前景进行了综述。 X-linked nonspecific mental retardation (MRX) related genes are a group of extensively studied genes whose mutation or deletion results in simple phenotypes of generalized or specific cognitive impairment in patients, such as, low intelligence and poor social adaptability. Studying the biological and cognitive functions of MRX related genes means much not only to the discovery of the genetic basis for non-specific MR, but also to the exploration into a new field of research about the molecular basis of human cognitive function. This paper summarizes recent progress on MRX studies, the current status and the prospect of this field.
出处 《遗传》 CAS CSCD 北大核心 2006年第4期501-506,共6页 Hereditas(Beijing)
基金 国家自然科学基金项目(编号:30470577) 国家十五科技攻关计划项目(编号:2001BA901A49)资助~~
关键词 非特异性精神发育迟滞 基因 认知功能 nonspecific mental retardation gene cognitive function
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  • 1Gecz J, Mulley J C. Genes for cognitive function., Developments on theX. Genome Res, 2000, 10:157-163.
  • 2Toniolo D, D'Adamo P. X-linked non-specific mental retardation. Current Opinion In Genetics & Development, 2000, 10:280-285.
  • 3Kohn M, Steinbach P, Hameister H,Kehrer-Sawatzki H.A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases, Eur J Hum Genet,2004, 12(1):29-37.
  • 4Billuart P, Chelly J, Carrie A, Vinet M, Couvert P, McDonell N,Zemni R, Kahn A, Moraine C, Beldjord C, Bienvenu T, Determination of the gene structure of human oligophrenin-1 and identification of the three novel polymorphisms by screening of DNA from 164 patients with nonspecific X-linked mental retardation.Ann Genet , 2000, 43:5-9.
  • 5Bienvenu T, des Portes V, McDonell N, Carrie A, Zemni R,Couvert P, Ropers H H, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh C A, Boue J, Kahn A, Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation,Am J Med Genet, 2000, 93:294-298,
  • 6Lebel R R, May M, Pouls S, Lubs H A, Stevenson R E, Schwartz C E, Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD 1 gene. Clin Genet, 2002, 61:139-145.
  • 7Zemni R, Bienvenu T, Vinet M C, Sefiani A, Carrie A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A,Brandau O, Ronce N, Moraine C, van Bokhoven H, Rooers H H, Sudbrak R, Kahn A, Fryns J P, Beldjord C, Chelly J. A new gene involved in X-linked mental retardation identified by analysis of an X,2 balanced translocation. Nature Genet, 2000, 24:167-170.
  • 8D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M,Tamanini F, Bienvenu T, Gedeon A K, Oostra B, Wu S K, Tandon A, Valtorta F, Balch W E, Chelly J, Toniolo D. Mutations in GDI1 are responsible for X-linked mental non-specific mental retardation. Nature Genet, 1998, 19:134-139.
  • 9Bienvenu T, Poirier K, Van Esch H, Hamel B, Moraine C, Fryns J P, Ropers H H,Beldjord C, Yntema H G,Chelly J. Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. J Meal Genet, 2003, 40:357-359.
  • 10Carrie A, Jun L, Bienvenu T, Vinet M C, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers H H, Strom T, Howell G R, Whittaker A,Ross M T, Kahn A, Fryns J P, Beldjord C, Marynen P, Chelly J. A new member of the Ⅱ-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet, 1999, 23:25-31.

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