一个近端指间关节周围胶原沉积症家系的全基因组扫描及散发病例的随访研究  

Genome scan of a pachydermodactyly family and follow up study for other sporadic cases

作　　者：叶霜[1] 陆晓晔[1] 杜蕙[1] 吴忠[2] 陈晓翔[1] 杨程德[1] 顾越英[1] 

机构地区：[1]上海交通大学医学院附属仁济医院风湿科,200001 [2]江苏大学附属医院风湿科

出　　处：《中华风湿病学杂志》2008年第2期92-94,共3页Chinese Journal of Rheumatology

基　　金：上海市自然科学基金资助项目（05ZR14060）

摘　　要：目的报道近端指间关节周围胶原沉积症2发病例9人家系一个，并对既往报道和新增的病例进行随访。方法对该家系的9位成员进行涵盖400多个微卫星标记的全基因组扫描，并对既往报道和新增的共12例进行随访。结果基因组扫描初步提示d2s305和d10s1652为可能的易感位点。随访显示：中位数病程为3年（1—7年）。其中失访3例，6例病情无变化，1例行整形手术者出现术后复发，另有2例存在自愈倾向。提示本病为局限性、良性经过。结论近2年来国内外的报道例数明显增加，进一步提示本病并非罕见。遗传因子可能在发病机制中发挥作用。Objective To study the genetic characteristics of pachydermodactly. Methods Nine subjects from the family were undergone genome-scale screening which covered more than 400 microsatellites genetic markers. Follow up study was carried out to the reported cases of us and other cases. Results Preliminary data indicated that the possible susceptible loci were d2s305 and d10s1652. Follow up study supported that pachydermodactyly was a localized, benign disorder. Two out of 12 patients displayed a spontaneous remission, but there was another case of recurrence after surgery. Conclusion Probably due to increased recognition, many pachydermodactly cases have been reported in the past two years, which indicates that this is not a real orphan disease. Genetic factors may play a role in the patbogenesis that needs further study.

关 键 词：系谱 近端指间关节周围胶原沉积症 易感基因 

分 类 号：R684[医药卫生—骨科学]