Citrin缺陷导致的新生儿肝内胆汁淤积症SLC25A13基因
三个新突变的识别及诊断
宋元宗;盛建胜;牛飼美晴;胡務亮;张春花;小林圭子
【期刊名称】《中华儿科杂志》 【年(卷),期】2008(046)006
【摘要】Objective Neonatal intrabepatic eholestasis caused by eitrin deficiency(NICCD,OMIM #605814) is a novel autosomal recessive disease caused by mutations in the gene SLC25A13 that encodes for citrin.a
liver-type
aspartate/glutamate
carrier
located
in
the
mitochondfial inner membrane.SIC25A13 was cloned in 1999 by Kobayashi et al at Kagoshima University in Japan,and until now,most of the NICCD patients reported in the world were Japanese.Most of the Chinese NICCD patients diagnosed by genetic analysis had the sanle SLC25A13 mutations as Japanese,however,in some cases,known mutatmns were not detected.This research aimed to identify novel SLC25A13 mutations in Chinese NICCD patients and to explore the experimental conditions for their genetic diagnosis.Methods Genomic DNA was extracted from blood samples of 3 NICCD patients from Taiwan(P757),Guangdong(P1194)and
Hebei
pmvince(P1443)
of
China,respectively,and all the 18 exons and their flanking sequences of SLC25A13 gene were sequenced.Furthermore.the identified novel mutations were diagnosed by amplification with PCR,digestion with
Citrin缺陷导致的新生儿肝内胆汁淤积症SLC25A13基因三个新突变的识别及诊断
