Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.
Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.
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DOI：
10.1186/s12881-017-0432-5
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发表时间：
2017-07-06
影响因子：
--
通讯作者：
Gouider R
中科院分区：
文献类型：
--
作者：
Landoulsi Z;Benromdhan S;Ben Djebara M;Damak M;Dallali H;Kefi R;Abdelhak S;Gargouri-Berrechid A;Mhiri C;Gouider R
在北非人群中，编码富含亮氨酸重复序列激酶2的LRRK2基因中的G2019S突变是与家族性和散发性帕金森病（PD）相关的最常见突变。通过快速基因检测早期检测G2019S对于指导PD的诊断和支持患者及其家庭照顾者根据疾病的演变更好地管理他们的生活非常重要。本研究利用竞争等位基因特异性PCR（KASP）技术，开发了一种可用于大规模基因分型的遗传性PD诊断工具。我们调查了250名突尼斯PD患者和218名对照者的G2019S频率。我们发现33.6%的患者和1.3%的对照是携带者。G2019S携带者的人口学特征与非携带者相比无差异。因此，我们可以强调G2019S在PD中的意义，而在研究队列中没有任何独特的人口统计学因素。250例患者中的60例使用Taqman测定和桑格测序进行基因分型。基因分型结果与KASP法一致。在我们的队列中G2019S突变频率与先前研究中报道的相似。与Taqman和桑格测序法相比，KASP是一种可靠、省时、经济的G2019 S基因分型方法。
In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD’s diagnosis and support patients and their family caregivers for better management of their life according to disease’s evolution. In our study, a genetic PD’s diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. We investigated G2019S’s frequency in 250 Tunisian PD patients and 218 controls. We found that 33.6% of patients and 1.3% of controls were carriers. Demographic characteristics of patients with G2019S had no differences compared with non-carrier patients. Thereby, we could emphasize the implication of G2019S in PD without any distinctive demographic factors in the studied cohort. Sixty patients out of 250 were genotyped using Taqman assay and Sanger sequencing. The genotyping results were found to be concordant with KASP assay. The G2019S mutation frequency in our cohort was similar to that reported in previous studies. Comparing to Taqman assay and Sanger sequencing, KASP was shown to be a reliable, time and cost effective genotyping assay for routine G2019S screening in genetic testing laboratories.
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影响因子：
7
作者：
Keogh MJ;Wei W;Wilson I;Coxhead J;Ryan S;Rollinson S;Griffin H;Kurzawa-Akanbi M;Santibanez-Koref M;Talbot K;Turner MR;McKenzie CA;Troakes C;Attems J;Smith C;Al Sarraj S;Morris CM;Ansorge O;Pickering-Brown S;Ironside JW;Chinnery PF
通讯作者：
Chinnery PF
影响因子：
11.2
作者：
Bettencourt C;Hensman-Moss D;Flower M;Wiethoff S;Brice A;Goizet C;Stevanin G;Koutsis G;Karadima G;Panas M;Yescas-Gómez P;García-Velázquez LE;Alonso-Vilatela ME;Lima M;Raposo M;Traynor B;Sweeney M;Wood N;Giunti P;SPATAX Network;Durr A;Holmans P;Houlden H;Tabrizi SJ;Jones L
通讯作者：
Jones L
影响因子：
3.9
作者：
Cookson, Mark R.
通讯作者：
Cookson, Mark R.
影响因子：
4.2
作者：
Benitez BA;Jin SC;Guerreiro R;Graham R;Lord J;Harold D;Sims R;Lambert JC;Gibbs JR;Bras J;Sassi C;Harari O;Bertelsen S;Lupton MK;Powell J;Bellenguez C;Brown K;Medway C;Haddick PC;van der Brug MP;Bhangale T;Ortmann W;Behrens T;Mayeux R;Pericak-Vance MA;Farrer LA;Schellenberg GD;Haines JL;Turton J;Braae A;Barber I;Fagan AM;Holtzman DM;Morris JC;3C Study Group;EADI consortium;Alzheimer's Disease Genetic Consortium (ADGC);Alzheimer's Disease Neuroimaging Initiative (ADNI);GERAD Consortium;Williams J;Kauwe JS;Amouyel P;Morgan K;Singleton A;Hardy J;Goate AM;Cruchaga C
通讯作者：
Cruchaga C
影响因子：
16.2
作者：
Paisán-Ruíz, C;Jain, S;Singleton, AB
通讯作者：
Singleton, AB