Yadav Ravi, Kapoor Saketh, Madhukar Mayank, Naduthota Rajini M, Kumar Arun, Pal Pramod Kumar
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Sciences, Bangalore, Karnataka, India.
Neurol India. 2018 Nov-Dec;66(6):1649-1654. doi: 10.4103/0028-3886.246249.
Mutations in the glucocerebrosidase (GBA) gene have been associated with Parkinson's disease (PD). Several variants in the gene have been identified as risk factors for the development of PD, but there is difference in the prevalence of this mutation in various ethnic groups and countries. There is no published study related to this field on the Indian population.
The aim of the study was to investigate the frequency of mutations in the GBA gene in Indian patients with PD.
To perform the mutation analysis of the GBA gene, we amplified its entire coding region, spanning 11 exons and intron/exon junctions in three fragments, with a set of three primer pairs using the long polymerase chain reaction enzyme mix from Fermentas, Canada.
We screened a total of 100 PD patients for mutations in the GBA gene. The sequence analysis identified the following five variants in this gene: IVS1 + 191G > C, IVS4 + 47G > A (rs. 2075569), IVS6 - 86A > G (rs. 114099990), IVS9 + 141A > G (rs. 28373017), and IVS10 + 3G > A. Of these, two variants IVS1 + 191G > C and IVS10 + 3G > A are novel, and the remaining three are known variants reported in the Single Nucleotide Polymorphism database (dbSNP). All the known variants were detected in homozygous as well as in heterozygous states. Both novel variants were identified in only one patient in a heterozygous state.
GBA mutation may not be so common in Indian patients with PD as compared to the other ethnic populations. These findings need to be confirmed in larger studies.
葡萄糖脑苷脂酶（GBA）基因突变与帕金森病（PD）有关。该基因中的几个变体已被确定为PD发病的风险因素，但这种突变在不同种族和国家的患病率存在差异。在印度人群中，尚未有关于该领域的已发表研究。
本研究的目的是调查印度PD患者中GBA基因突变的频率。
为了进行GBA基因的突变分析，我们使用来自加拿大Fermentas公司的长聚合酶链反应酶混合物，通过一组三对引物对，将其整个编码区（跨越11个外显子和内含子/外显子接头）扩增为三个片段。
我们总共筛选了100例PD患者的GBA基因突变情况。序列分析在该基因中鉴定出以下五个变体：IVS1 + 191G > C、IVS4 + 47G > A（rs. 2075569）、IVS6 - 86A > G（rs. 114099990）、IVS9 + 141A > G（rs. 28373017）和IVS10 + 3G > A。其中，两个变体IVS1 + 191G > C和IVS10 + 3G > A是新发现的，其余三个是单核苷酸多态性数据库（dbSNP）中报道的已知变体。所有已知变体均在纯合子和杂合子状态下被检测到。两个新变体仅在一名患者中以杂合子状态被鉴定出。
与其他种族人群相比，GBA突变在印度PD患者中可能不那么常见。这些发现需要在更大规模的研究中得到证实。
