Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi Jewish patients. Notably, there are limited studies on black patients from the African continent; hence, we conducted a study on 30 South African black PD patients. All 11 exons of GBA were screened using a nested PCR approach to avoid pseudogene contamination. We identified previously described Gaucher's disease-associated variants, p.R120W in one patient [age at onset (AAO) of 35 years], and p.R131L in another patient (AAO 30 years) and in her affected sibling (AAO 45 years). In addition, we found 3 previously identified [p.K(-27)R, p.T36del, and p.Q497*] and 2 novel (p.F216L and p.G478R) variants. Screening of ethnic-matched controls for the novel variants revealed that the allele frequency of p.F216L was 9.9%, whereas p.G478R was not found in the controls. Studies such as these are important and necessary to reveal the genetic architecture underlying PD in the understudied patients of African ancestry.

中文翻译：

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非洲裔南非帕金森病患者葡糖脑苷脂酶（GBA）基因的筛选

葡糖脑苷脂酶 (GBA) 中的序列变异是帕金森病 (PD) 的主要遗传风险因素，并显示出种族依赖性频率，例如，p.N370S 和 84insGG 等变异在德系犹太人患者中很常见。值得注意的是，对来自非洲大陆的黑人患者的研究有限；因此，我们对 30 名南非黑人 PD 患者进行了研究。使用嵌套 PCR 方法筛选 GBA 的所有 11 个外显子以避免假基因污染。我们确定了先前描述的戈谢病相关变异，一名患者 [发病年龄 (AAO) 35 岁] 中的 p.R120W，另一名患者 (AAO 30 岁) 及其患病兄弟姐妹 (AAO 45 岁) 中的 p.R131L . 此外，我们发现了 3 个先前确定的 [pK(-27)R、p.T36del 和 p.Q497*] 和 2 个新的（p.F216L 和 p.G478R）变体。对新变体的种族匹配对照的筛选显示，p.F216L 的等位基因频率为 9.9%，而在对照中未发现 p.G478R。诸如此类的研究对于揭示未充分研究的非洲血统患者的 PD 的遗传结构是重要且必要的。