Haplotype information on Japanese and French SCA36 families
| Distance from the mutation | −1130 kb | −660 kb | −600 kb | −429 bp | −348 bp | −289 bp | −272 bp | −170 bp | −161 bp | 0 | + “705 bp | + ‘801 bp | +7 kb | +52 kb | +460 kb | +640 kb | +780 kb | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Marker in the chromosome 20p13 | telomere | D20S906 | D20S179 | D20S113 | rs6083954 | rs2073196 | rs6083956 | rs2073195 | rs6115305 | rs4815467 | GGCCTG repeat | rs6050911 | rs78833048 | D20S198 | D20S842 | AFMa049yd 1 | D20S181 | D20S193 centromere |
| The common haplotype in the Okayama SCA36 family ref. 4 (#II-3) | 2/3 not shared | 2 | 3 | T | G | T | G | G | C | long | C | G | 3 | 3 | 3 | 1 | 4/5 not shared | |
| Japanese SCA36 individuals | ||||||||||||||||||
| 1 | Kinki-1 | 2/3 | 2/1 | 3/3 | T | G | T | G | G | C | long | C | G | 3/8 | 3/13 | 3/3 | 1/1 | 4/7 |
| 2 | Kanto-1 | 1/3 | 2/5 | 3/5 | T | G | T | G | G | C | short | C | G | 3/2 | 3/8 | 3/2 | 1/10 | 5/5 |
| 3 | Chubu-2 | 2/2 | 1/1 | 3/6 | T | G | T | G | G | C | long | C | G | 3/3 | 3/1 | 3/2 | 1/6 | 3/7 |
| 4 | Shikoku-1 | 2/2 | 1/8 | 1/2 | T | G | T | G | G | C | long | C | G | 3/3 | 4/5 | 2/3 | 1/4 | 7/8 |
| French SCA36 families | ||||||||||||||||||
| AAD508–5 | 2/4 | 1/1 | 1/1 | T | G | T | G | G | C | long | C | G | 3/3 | 4/5 | 3/7 | 3/11 | 8/7 | |
| 1 | AAD508-7 | 2/2 | 1/1 | 1/1 | T | G | T | G | G | C | long | C | G | 3/7 | 4/4 | 3/6 | 3/11 | 8/6 |
| AAD508-15 | 2/2 | 1/1 | 1/1 | T | G | T | G | G | C | long | C | G | 3/4 | 4/2 | 3/2 | 3/2 | 8/4 | |
| AAD508-17 | 2/2 | 1/1 | 1/1 | T | G | T | G | G | C | long | C | G | 3/7 | 4/4 | 3/6 | 3/3 | 8/5 | |
| 2 | AAD344-9 | 2/5 | 1/1 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/7 | 4/12 | 3/2 | 3/4 | 8/5 |
| 3 | AAD682-9 | 2/3 | 1/1 | 1/4 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/3 | 4/4 | 3/6 | 3/11 | 8/7 |
| 4 | AAD681-11 | 2/3 | 1/1 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/2 | 4/5 | 3/3 | 3/11 | 5/9 |
| 5 | AAD814-13 | 3/5 | 1/1 | 1/5 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/7 | 4/2 | 3/3 | 3/3 | 5/6 |
| 6 | AAD379-5 | 2/8 | 1/1 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/2 | 4/5 | 4/6 | 3/3 | 5/6 |
| 7 | AAD803-22 | 2/3 | 1/6 | 1/6 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/2 | 6/9 | 4/6 | 3/3 | 5/5 |
| 8 | AAD709-15 | 3/4 | 1/6 | 1/5 | NA | NA | NA | NA | NA | NA | short | NA | NA | 3/3 | 6/6 | 4/2 | 3/3 | 5/7 |
| SAL334-3 | 5/2 | 1/1 | 1/1 | T | G | T | G | G | C | long | C | G | 3/8 | 6/8 | 7/2 | 11/1 | 7/5 | |
| SAL334-7 | 5/3 | 1/2 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/3 | 6/4 | 7/3 | 11/3 | 7/5 | |
| SAL334-9 | 5/3 | 1/2 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/3 | 6/4 | 7/3 | 11/3 | 7/5 | |
| 9 | SAL334-13 | 5/2 | 1/1 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/8 | 6/8 | 7/2 | 11/1 | 7/5 |
| SAL334-17 | 5/3 | 1/2 | 1/1 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/3 | 6/2 | 7/6 | 11/11 | 7/6 | |
| SAL334-19 | 5/3 | 1/1 | 1/5 | NA | NA | NA | NA | NA | NA | long | NA | NA | 3/3 | 6/8 | 7/6 | 11/3 | 7/7 | |
| 10 | AAD352-6 | 3/4 | 1/6 | 5/4 | T | G | T | G | G | C | short | C | G | 3/3 | 8/4 | 3/4 | 1/3 | 4/10 |
| AAD352-18 | 3/4 | 1/6 | 5/3 | T | G | T | G | G | C | long | C | G | 3/7 | 8/5 | 3/6 | 1/3 | 5/11 | |
| 11 | AAD829-3 | 2/2 | 1/1 | 3/3 | T | G | T | G | G | C | long | C | G | 3/6 | 5/6 | 2/2 | 3/5 | 3/8 |
The location of the GGCCTG repeat is shaded in light blue. The Japanese founder haplotype in the Okayama family (see reference #4) and its extent shared in other families are shown by bold boxes. The haplotype shared by Japanese families is coloured in grey. The French haplotypes are coloured in yellow (the most common one), green and purple. The allele frequency of ‘3’ in D20S198 is 28% in the Japanese (+) control population and 55% in the French (*) control population.
NA stands for single-nucleotide polymorphic markers that have not been analysed.
The 5th Japanese family and the 12th French SCA36 family (SAL-367) were not able to assess their haplotype and therefore are not listed in table 1.
SCA36, spinocerebellar ataxia 36.