Abstract: Objective To investigate the clinical phenotype and IRF6 gene mutation in two Chinese kindred with Van der Woude syndrome (VWS),and understand the mutations of IRF6 and suspicious mutation hotspots in Chinese people.Methods The peripheral blood of 24 members from two VWS families were collected and directly performed the polymerase chain reaction (PCR) for screening the coding region of IRF6 gene.The soft ware of mutation surveyor was used to analysis the sequence.Results There were six VWS subjects in two families,5 (83.3%) patients had cleft lip and palate;5 (83.3%) patients had lip fistula.The results of IRF6 gene sequencing showed,six patients had mutations of IRF6 gene in 24 family members.The c.1234C>T heterozygous mutation was detected in 3 patients of family 1.In family 2,3 patients were carrying c.1210G> A heterozygous mutations.The other members of the families were wild type (wt/wt) for IRF6.Conclusions Based on these findings,the spectrum of mutations in IRF6 associated with VWS is extended.Genetic testing showed that cosegregated with the disease mutation.The identification of the role of IRF6 in VWS may help us to study any possible genotypephenotype relationship by combining molecular genetics.The mutations will play important role in genetic analysis and prenatal diagnosis of VWS.The ultrasound easily missed cleft palate,genetic testing can compensate for the lack of prenatal ultrasound.

Key words: programmed cell death 5, hypoxic ischemia encephalopathy, apoptosis , neonates

摘要： 目的 探讨程序化细胞死亡基因5(programmed cell death 5,PDCD5)在新生儿缺氧缺血性脑病(hypoxic-ischcmic encephalopathy,HIE) 血清中的表达及与细胞凋亡的关系,分析其与血清高敏C反应蛋白(high-sensitivity C-reactive protein hsCRP)水平及临床分度之间的相关性,为临床早期诊断及病情判断提供理论依据。方法 选择70例HIE患儿,按临床分度(轻度、中度、重度)分为三个亚组,轻度组30例,中度组20例,重度组20例,同期出生的足月健康新生儿30例为对照组,采用酶联免疫吸附双抗体夹心ELISA法检测生后1、3、7 d血清PDCD5水平,并检测其生后3、7 d血清hsCRP水平。结果 HIE各组生后1 d血清PDCD5开始升高,3 d达高峰,7 d下降。血清PDCD5水平在HIE各组中呈现据病情分度依次升高的变化规律,组间差异具有统计学意义(P＜0.01)。HIE病情越重,PDCD5升高越明显,HIE各组生后1 d(r=0.851)、3 d(r=0.932)、7 d(r=0.773)血清PDCD5水平与病情分度呈正相关(P均＜0.001)。HIE各组生后3 d和7 d血清hsCRP水平均较对照组明显升高,差异有统计学意义(P＜0.01)。HIE患儿生后3 d(r=0.604)、7 d(r=0.379)血清PDCD5水平与血清hsCRP水平呈正相关(P均＜0.001)。结论 PDCD5可能参与了新生儿HIE中细胞凋亡的发生与发展。 动态检测HIE患儿清中PDCD5和hsCRP水平对判断新生儿HIE的病情严重程度、评估预后有一定的临床价值。

关键词: 程序化细胞死亡基因5, 缺氧缺血性脑病, 凋亡, 新生儿
中图分类号:R722 文献标识码:A 文章编号:1008-6579(2015)08-0788-03 doi:10.11852/zgetbjzz2015-23-08-02