CFC1基因与多脾综合征相关的胆道闭锁的关系。
CFC1 gene involvement in biliary atresia with polysplenia syndrome.
作者信息
Davit-Spraul Anne, Baussan Christiane, Hermeziu Bogdan, Bernard Olivier, Jacquemin Emmanuel
机构信息
Biochemistry Laboratory, France.
出版信息
J Pediatr Gastroenterol Nutr. 2008 Jan;46(1):111-2. doi: 10.1097/01.mpg.0000304465.60788.f4.
Abstract
The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.
摘要
本报告描述了对10例多脾综合征患者的CFC1基因分析。在5例患者中鉴定出位于外显子5的杂合性转换c.433G>A（Ala145Thr），其频率是对照患者的两倍。这些结果表明，杂合性CFC1突变可能代表胆道闭锁脾畸形综合征的遗传易感性。
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