Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-AshkenaziJewish pedigrees. -- Dupont et al. 34 (5): 375 -- Journal of Medical Genetics
作者: M DupontC DrossN SmaouiB NedelecG GrateauC ClépetI GourdierI Koné-PautM DelpechJ DemailleI Touitou
作者单位: 1Laboratoire de Génétique Moléculaire et Chromosomique, Hôpital A de Villeneuve, Montpellier, France.
刊名: Journal of Medical Genetics, 1997, Vol.34 (5), pp.375-381
来源数据库: Publishing Group Ltd 期刊
DOI: 10.1136/jmg.34.5.375
原始语种摘要: Familial Mediterranean fever is an autosomal recessive disease characterised by multiple attacks of serosal inflammation inthe absence of treatment. In the absence of timely diagnosis, renal amyloidosis is a life threatening complication. The diagnosisis often missed because no specific test is available. Early colchicine treatment prevents attacks and renal complications.The FMF gene (MEF) has been mapped to chromosome 16p 13.3 but has not yet been identified. We compared the suitability ofa series of microsatellite markers (four of them were new) and propose the routine use of seven of these markers, exhibitingalleles in strong linkage disequilibrium with the disease and informative in 100% of diagnosed patients. Moreover, the discoveryof a homozygous status for the 3-3-9 (or 3-3-18)...
全文获取路径: PDF下载  BMJ 
影响因子:5.703 (2012)

  • extensive 广泛的
  • FMF File Microprogram Flags
  • markers 时标
  • Mediterranean 被陆地包围的
  • colchicine 秋水仙碱
  • available 可供应的
  • genetic 遗传的
  • likely 大概
  • targeted 对准目标的
  • treatment 处理