1 |
LRRK2, PRKN, ATXN3 |
Analyzed for common mutations using the Oragene kit for DNA extraction (DNA genotek) |
No pathogenic mutations were found. |
51 PD patients & 51 controls |
Nigeria (Okubadejo et al. [7]) |
2 |
Parkin |
Single-strand conformation polymorphism analysis and the HRM* technique |
• Four disease-causing missense heterogeneous changes (H200Q, D280N, E310D, R4026) |
91 |
South Africa (Bardien et al. [42]) |
• Two homozygous exon deletions (exon 3 & 4) |
3 |
LRRK2 |
HRM |
• LRRK2 G2019S mutation found in 2 patients |
205 |
South Africa (Bardien et al. [12]) |
4 |
SNCA, Parkin, PINK1, DJ-1, LRRK2, UCH-L1, ATP13A2 |
MLPA†
|
• Exonic rearrangement in Parkin & SNCA in 7 (8%) patients |
88 |
South Africa (Keyser et al. [11]) |
• No exonic rearrangement in 4 genes (LRRK2, PINK1, DJ-1, & ATP13A2) |
|
5 |
PINK1 |
HRM technique & direct sequencing |
• Sixteen variants found: |
154 |
South Africa (Keyser et al. [11]) |
- One homozygous mutation (Y258X) |
- Two heterozygous missense variants (P305A & E476K) |
- Thirteen polymorphisms, of which five were novel. |
6 |
MAPT, SNCAIP |
HRM method |
• Two novel variants found for MAPT |
202 |
South Africa (Keyser et al. [10]) |
• One previously sequenced variant (E709Q) and three novel missense variants of SNCAIP |
7 |
E1F4G1‡ (NM_182917.3) |
PCR amplified & sequenced |
• EIF4G1 coding variants found in the SSA population were M290I, R305C, Y311C, P382L, E477K, & R1216H. |
127 (SSA samples from the Human Diversity series) |
Sample from the Central African Republic, the DR of the Congo, Kenya, Nigeria, Namibia, Senegal, and South Africa (Tucci et al. [6]) |
8 |
SNCA, LRRK2, PINK1, DJ-1, Parkin |
Direct sequencing |
• Pathogenic mutation not detected in SNCA, PINK1 or DJ-1 |
39 |
Zambia (Yonova-Doing et al. [43]) |
• Novel LRRK2 missense variant detected in one case |
• Two heterozygous likely disease-causing deletions of Parkin (exon 2 & 4) detected in early-onset cases |
9 |
Parkin |
HRM and MLPA |
• Seven patients compound mutation in Parkin gene |
229 PD patients and ethically |
South Africa (Haylett et al. [9]) |
• Seven patients had heterozygous sequence variants |
matched controls |
10 |
LRRK2 |
Direct sequencing |
LRRK2 exon 41 & 31 screening did not detect any mutations in all samples. |
54 PD patients and 46 controls |
Ghana (Cilia et al. [53]) |
11 |
EIF4G1, VPS35‡
|
KASP genotyping assay |
No mutations found |
418 PD patients & 528 controls |
South Africa (Blanckenberg et al. [3]) |