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JunoSeqTM Epilepsy 遗传性癫痫基因检测

       癫(dian)(dian)痫(xian)(xian)(xian)(epilepsy)是一种(zhong)世界范围内常见的(de)(de)(de)神(shen)经系统疾病(bing)(bing)(bing)。患者出现(xian)≥2次(间(jian)隔至少24h)非(fei)诱(you)发性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian)发作时,就可(ke)诊断癫(dian)(dian)痫(xian)(xian)(xian)。据世界卫生组织(zhi)(WHO)的(de)(de)(de)报(bao)告(gao)显示(shi),癫(dian)(dian)痫(xian)(xian)(xian)的(de)(de)(de)患病(bing)(bing)(bing)率在(zai)(zai)5.0‰-11.2‰。我国的(de)(de)(de)癫(dian)(dian)痫(xian)(xian)(xian)患病(bing)(bing)(bing)率为7.2‰。遗(yi)(yi)传(chuan)性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian)(genetic epilepsy),又名特发性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian)(idiopathic epilepsy),是一组除遗(yi)(yi)传(chuan)因素(su)外无(wu)其(qi)(qi)他潜在(zai)(zai)病(bing)(bing)(bing)因的(de)(de)(de)癫(dian)(dian)痫(xian)(xian)(xian)和癫(dian)(dian)痫(xian)(xian)(xian)综合征,约占所(suo)(suo)有(you)(you)癫(dian)(dian)痫(xian)(xian)(xian)的(de)(de)(de)47%。其(qi)(qi)中,遗(yi)(yi)传(chuan)性(xing)(xing)全(quan)面(mian)(mian)性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian)(genetic generalized epilepsy, GGEs),又名特发性(xing)(xing)全(quan)面(mian)(mian)性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian)(idiopathic generalized epilepsy, IGEs)是最常见的(de)(de)(de)遗(yi)(yi)传(chuan)性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian),占所(suo)(suo)有(you)(you)癫(dian)(dian)痫(xian)(xian)(xian)的(de)(de)(de)30%,而(er)儿(er)童失神(shen)癫(dian)(dian)痫(xian)(xian)(xian)(childhood absence epilepsy, CAE)是遗(yi)(yi)传(chuan)性(xing)(xing)全(quan)面(mian)(mian)性(xing)(xing)癫(dian)(dian)痫(xian)(xian)(xian)的(de)(de)(de)主要类(lei)型(xing),约占所(suo)(suo)有(you)(you)小儿(er)癫(dian)(dian)痫(xian)(xian)(xian)的(de)(de)(de)10%。

       遗传性癫(dian)(dian)痫(xian)(xian)以发(fa)(fa)病(bing)时间具年龄相(xiang)关(guan)(guan)性、神经(jing)系(xi)统和认知(zhi)发(fa)(fa)育正常及(ji)(ji)无脑损伤为特征。目前认为,仅(jin)1%-2%的遗传性癫(dian)(dian)痫(xian)(xian)是(shi)(shi)单(dan)基(ji)(ji)因(yin)(yin)(yin)(yin)引(yin)起,多数遗传性癫(dian)(dian)痫(xian)(xian)为多基(ji)(ji)因(yin)(yin)(yin)(yin)疾(ji)(ji)病(bing)。近(jin)年来发(fa)(fa)现的与(yu)癫(dian)(dian)痫(xian)(xian)相(xiang)关(guan)(guan)的基(ji)(ji)因(yin)(yin)(yin)(yin),多数为电(dian)压门(men)(men)控(kong)或(huo)配体(ti)门(men)(men)控(kong)离(li)子通道编码(ma)基(ji)(ji)因(yin)(yin)(yin)(yin)。另外(wai),也有少数癫(dian)(dian)痫(xian)(xian)易感(gan)(gan)基(ji)(ji)因(yin)(yin)(yin)(yin)是(shi)(shi)非离(li)子通道基(ji)(ji)因(yin)(yin)(yin)(yin),但这些基(ji)(ji)因(yin)(yin)(yin)(yin)所编码(ma)的蛋白可与(yu)离(li)子通道相(xiang)互作用(yong)。研究发(fa)(fa)现,易感(gan)(gan)基(ji)(ji)因(yin)(yin)(yin)(yin)的变异(yi)是(shi)(shi)引(yin)发(fa)(fa)癫(dian)(dian)痫(xian)(xian)的重要原(yuan)因(yin)(yin)(yin)(yin),但其(qi)并不(bu)是(shi)(shi)唯一(yi)的致病(bing)模式。CNVs(包括基(ji)(ji)因(yin)(yin)(yin)(yin)片段的缺失、插入或(huo)重复(fu))很可能是(shi)(shi)另一(yi)致病(bing)因(yin)(yin)(yin)(yin)素。因(yin)(yin)(yin)(yin)此,对癫(dian)(dian)痫(xian)(xian)(尤其(qi)是(shi)(shi)IGEs)进行(xing)分子检测有助于(yu)临床诊断及(ji)(ji)分型,为疾(ji)(ji)病(bing)的治(zhi)疗及(ji)(ji)遗传咨询(xun)提供依(yi)据(ju)。


检(jian)测项目(mu)

遗传性癫痫

在遗传性癫痫患者中,离子通道编码基因的变异是引发癫痫的重要原因。与遗传性癫痫相关的基因包括CHRNA4、CHRNB2、CHRNA2、KCNQ2、KCNQ3、SCN2A、SCN1A、GABRG2等。中翰欧洲杯线上买球 医学检验所通过对数据库、文献检索收集整理了与遗传性癫痫相关的致病基因,并对其测序,通过生物信息分析对这些基因信息进行解读,为寻找遗传性癫痫致病原因提供依据。

 

项目名称:遗传性(xing)癫(dian)痫(靶向测序)

项目编号:1010009

检测方(fang)法(fa):NGS

检测(ce)内(nei)容:300+个(ge)基因

样本要求:受检(jian)者EDTA抗(kang)凝全(quan)血2ml + 受检(jian)者父母EDTA抗(kang)凝全(quan)血各(ge)2ml

检测(ce)周期:35个工(gong)作日

项目收(shou)费:请询价

 

参考文(wen)献

1.    Weber Y G, Lerche H. Genetic mechanisms in idiopathic epilepsies. Developmental Medicine & Child Neurology, 2008, 50(9):648.

2.     Gallentine W B, Mikati M A. Genetic generalized epilepsies. Journal of Clinical Neurophysiology Official Publication of the American Electroencephalographic Society, 2012, 29(5):408-19.

3.     蒋永莉(li), 杨(yang)西爱, 杨(yang)颖,等. 癫痫遗(yi)传(chuan)学(xue)研究新进展. 中华神经科杂(za)志, 2017, 50(6).

4.     姜玉武, 谢(xie)涵. 特发性全面性癫痫的遗传(chuan)学(xue)研究进展. 北京大学(xue)学(xue)报(医学(xue)版(ban))医学(xue)版(ban), 2013, 45(2):186-191.