帕金森病与富含亮氨酸重复序列激酶2基因G2019S、R1441C突变的相关性

Correlation between leucine-rich repeat kinase 2 gene gene G2019S and R1441C mutation and Parkinson disease

目的探讨富含亮氨酸重复序列激酶2基因（LRRK2）G2019S、R1441C突变与新疆维吾尔族（维族）帕金森病（PD）发病的关系。方法采用病例-对照研究，选择病例组130例，对照组179例，利用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和DNA测序法对新疆地区维族人群中LRRK2基因G2019S、R1441C突变进行分析。结果新疆维族PD病例组及对照组LRRK2基因G2019S及R1441C酶切后分别为GG型及CC型，未见突变及新的杂合，经测序后与酶切结果一致，均未检测出LRRK2基因G2019S（6055G-A）位点突变GA型及R1441C（4321c-T）位点突变cT型，其突变频率均为0；差异无统计学意义（P〉0．05）；（G2019S及R1441C基因型X^2=0．00，P〉0．05；G2019S及R1441C等位基因X。=0．00，P〉0．05）；LRRK2基因G2019S（6055G→A）及R1441C（4321C-T）位点突变在年龄、性别中的分布差异均无统计学意义（P〉0．05）。结论LRRK2基因G2019S及R1441C可能与新疆维族PD患者发病无相关，不排除其他LRRK2基因突变与新疆维吾尔族PD患者发病有关。

Objective To study the correlation between leucine-rich repeat kinase 2 gene （LRRK2） gene G2019S mutation or R1441C mutation and Parkinson disease （PD） in Uygur. Methods select the case group 130 eases, control group 179 examples, their LRRK2 gene G2019S and R1441C mu tation are analysised by the polymerase chain reaction-restriction fragment length polymorphism （PCR- RFLP） and DNA sequencing method and in the case-control study in xinjiang Uyghur. Results LRRK2 gene G2019S is GG type and R1441C is CC type by enzyme digested in Xinjiang Uyghur PD eases and con trol group, no mutation and new hybrid, After sequencing and enzyme digestion, there has not been detec ted LRRK2. The LRRK2 gene of G2019S （6055G→A） site of GA type and R1441C （4321C→T） site of CT type were not detected in Xinjiang Uyghur （PD in the case group） and the control group. The mutation frequency was 0. There were no significant differences in distribution （G2019S and R1441C of genotype, X2 = 0. 00, P 〉 0. 05 ; G2019S and R1441C of allele, X^2 = 0. 00, P 〉 0. 05 ）. The LRRK 2 gene G2019S （6055G→A） and R1441C 4321C→T） mutation were no significant differences in distribution of age and gender. （P 〉 0. 05 ）. Conclusion There is no evidence of Uygur PD patients G2019S mutation and R1441C mutation of LRRK2 gene. Don＇ t rule out other LRRK2 gene mutations associated with Uygur PD.