Table 2.
Summary of the HTT haplogroups/haplotypes and associated allele structures in disease and non-disease alleles
| Haplogroups | Haplotypes | Allele structures |
Non-disease |
Disease |
||
|---|---|---|---|---|---|---|
| n | % | n | % | |||
| A | ∗A2a | Q1-2-2-7-2 | – | – | 1 | 1.5 |
| ∗A2b | Q1-2-2-7-2 | 13 | 3.4 | 1 | 1.5 | |
| A4a | Q1-2-2-7-2 Q1-2-2-12-2 Q1-2-2-13-2 |
5 1 1 |
1.3 0.3 0.3 |
3 – – |
4.5 – – |
|
| A4b | Q1-2-2-7-2 | 2 | 0.5 | 5 | 7.5 | |
| A6 | Q1-2-2-7-2 | 34 | 8.9 | – | – | |
| B | B1 | Q1-2-2-9-2 | 1 | 0.3 | 1 | 1.5 |
| B2 |
Q1-2-0-9-2 Q1-0-0-9-2 Q1-4-2-4-3 |
25 – – |
6.6 – – |
29 2 1 |
43.3 3.0 1.5 |
|
| C | C2 | Q1-4-2-7-3 Q1-2-2-8-2 |
21 5 |
5.5 1.3 |
– – |
– – |
| C4 | Q1-2-2-9-2 | 21 | 5.5 | 1 | 1.5 | |
| C4c | Q1-2-2-6-2 | 11 | 2.9 | – | – | |
| C5 | Q1-2-2-10-2 Q1-2-2-11-2 Q1-2-2-10-3 Q1-2-0-9-2 Q1-4-2-10-2 |
69 18 1 2 4 |
18.1 4.7 0.3 0.5 1.0 |
19 – – – – |
28.4 – – – – |
|
| C8 | Q1-2-2-9-2 | 7 | 1.8 | – | – | |
| C-SA | C3 | Q1-2-2-10-2 Q1-2-2-9-3 |
1 90 |
0.3 23.6 |
– – |
– – |
| C9 | Q1-2-2-6-3 Q1-2-2-7-2 |
2 7 |
0.5 1.8 |
4 – |
6.0 – |
|
| C10 | Q1-2-2-4-3 | 1 | 0.3 | – | – | |
| Other | O | Q1-2-2-7-2 Q1-2-2-9-3 Q1-2-2-10-2 |
36 2 1 |
9.4 0.5 0.3 |
– – – |
– – – |
| Total | #381 | 100.0 | 67 | 100.0 | ||
The two haplotypes that had not been previously identified in African ancestry individuals are indicated by an asterisk (∗). The most common non-disease and disease haplogroup/haplotype are indicated in underlined italics. The most common disease allele structure Q1-2-0-9-2 (29 out of 67 = 43.3%) is indicated in italics. Two samples (one disease allele and three non-disease alleles) from the sequence diversity analysis presented in Table 1 were excluded due to unsuccessful tag-SNP genotyping (#).