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遗传性皮肤病的分子遗传学研究进展

Progress of molecular genetics on genetic dermatoses
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摘要 随着人类基因组计划的成功完成和分子遗传学的迅速发展,遗传性皮肤病的研究已经取得长足的进展。本文综述了近年来遗传性皮肤病的基因定位、基因型-表型的相关性研究、产前诊断以及遗传性皮肤病的基因治疗及未来的研究方向。 With the accomplishment of HGP and rapid development of molecular genetics, much more progress has been made in the study of genodermatoses. Here,the authors review genetic dermatoses about gene indentification, relationship between genotype and phenotype, prediagnosis of delivery, gene therapy and direction of future study.
出处 《食品与药品》 CAS 2005年第11A期8-11,共4页 Food and Drug
关键词 遗传性皮肤病 突变 基因型-表型关系 基因治疗 genodermatoses mutation relationship of genotype-phenotype gene therapy
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参考文献22

  • 1Antonarakis SE, McKusick VA. OMIM passes the 1000-disease-gene mark[J]. Nat Genet, 2000, 25:11.
  • 2Ahn W, Lee MG, Kim KH, et al. Multiple effects of SERCA2b mutations associated with Darier's disease[J]. J Biol Chem,2003, 78:20795-20801.
  • 3Norgett EE, Hatsell S J, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy,woolly hair and keratoderma[J]. Hum Mol Genet, 2000, 9:2761-2766.
  • 4Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome[J]. Am J Hum Genet, 2002, 70: 1341-1348.
  • 5Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotypegenotype correlation[J]. Br J Dermatol, 1999, 140: 815-828.
  • 6Fine JD, Eady RA, Bauer EA, et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa[J]. J Am Acad Dermatol, 2000, 42: 1051-1066.
  • 7Jonkman MF, Scheffer H, Stulp R, et al. Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion[J]. Cell, 1997, 88: 543-551.
  • 8Gache Y, Allegra M, Bodemer C, et al. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging[J].Hum Mol Genet, 2001, 10: 2453-2461.
  • 9Takizawa Y, Pulkkinen L, Chao SC, et al. Mutation report:complete paternal urtiparental isodisomy of chromosome 1:a novel mechanism for Herlitz junctional epidermolysis bullosa[J]. J Invest Dermatol , 2000, 115:307-311.
  • 10Cserhalmi-Friedman PB, Garzon MC, Guzman E, et al.Maternal germline mosaicism in dominant dystrophic epidermolysis bullosa[J]. J Invest Dermatol, 2001, 117:1327-1328.

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