Table 1.
SNP-based haplotypes in Jewish MJD families of Yemenite descent, compared to (1) Joseph and (2) Machado MJD lineages and to (3) Yemenite controls, at a 15 kb region of ATXN3
| refSNP (HGVS) | refSNP ID | Machado MJD lineage | Joseph MJD lineage | Jewish MJD fams (n = 6) | Jewish control haplotypes (n = 100 chromosomes) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| JC6 (n = 1) | JC2 (n = 26) | JC4 (n = 8) | JC1 (n = 53) | JC3 (n = 8) | JC5 (n = 3) | JC7 (n = 1) | |||||
| NC_000014.9:g.92083288 C>A | rs12590497a | G | T | T | T | T | G | G | G | G | G |
| NC_000014.9:g.92083242 G>A | rs16999141a | T | T | T | T | T | T | C | T | C | C |
| NC_000014.9:g.92082552 A>C | rs10146519 | T | G | G | G | G | T | T | T | T | T |
| NC_000014.9:g.92082441 C>T | rs1048755a | G | A | A | A | A | G | G | G | G | G |
| NC_000014.9:g.92072185 G>A | rs12586535 | C | T | T | T | T | C | C | C | C | C |
| NC_000014.9:g.92072061 A>G | rs12586471 | T | C | C | C | C | T | T | T | T | T |
| NC_000014.9:g.92071824 T>C | rs56268847 | A | A | A | A | A | A | A | A | A | A |
| NC_000014.9:g.92071441 C>T | rs10467858 | G | A | A | A | A | G | G | G | G | G |
| NC_000014.9:g.92071399 G>C | rs10467857 | G | G | G | G | G | G | C | C | C | C |
| NC_000014.9:g.92071388 A>G | rs10467856 | T | C | C | C | C | T | T | T | T | T |
| (CAG)n | |||||||||||
| NC_000014.9:g.92071010 C>G | rs12895357a | G | C | G | G | C | G | G | G | G | G |
| NC_000014.9:g.92070879 G>T | rs7158733a | C | A | A | A | A | C | C | C | C | C |
| NC_000014.9:g.92070819 T>G | rs3092822a | A | C | C | C | C | A | A | A | A | A |
| NC_000014.9:g.92070761 C>T | rs7158238 | G | A | A | A | A | G | G | G | G | A |
| NC_000014.9:g.92070615 T>C | rs12588287 | A | G | A | A | G | A | A | A | A | A |
| NC_000014.9:g.92070595 C>T | rs7153615 | G | A | A | A | A | G | G | G | G | G |
| NC_000014.9:g.92070572 C>T | rs7153603 | G | A | A | A | A | G | G | G | G | G |
| NC_000014.9:g.92070452 G>A | rs7153696 | C | T | T | T | T | C | C | C | C | C |
| NC_000014.9:g.92070423 C>T | rs7153374 | G | A | A | A | A | G | G | G | G | G |
| NC_000014.9:g.92070350 C>A | rs7153193 | G | T | T | T | T | G | G | G | G | G |
| NC_000014.9:g.92069317 A > G | rs4904833 | T | C | C | C | C | T | T | T | T | T |
| NC_000014.9:g.92069172 G>A | rs7146985 | C | T | T | T | T | C | C | C | C | C |
| NC_000014.9:g.92069100 A>T | rs113572439 | T | A | A | A | A | T | T | T | T | T |
| NC_000014.9:g.92068664 T>C | rs2006047 | G | G | G | G | G | G | A | A | A | A |
| NC_000014.9:g.92068591 G>A | rs146668789 | C | C | C | C | C | C | C | C | T | C |
| NC_000014.9:g.92068571 C>T | rs8004149 | G | A | A | A | A | G | G | G | G | G |
| NC_000014.9:g.92068539 C>T | rs111735934 | A | G | G | G | G | G | G | G | G | G |
| NC_000014.9:g.92068435 G>A | rs181752420 | C | C | C | C | C | C | C | C | C | C |
| NC_000014.9:g.92068397 T>C | rs7142326 | G | G | G | G | G | G | A | A | A | A |
| NC_000014.9:g.92068329 G>A | rs74071847 | C | C | C | C | C | C | C | C | C | C |
In bold are the alleles that differ from the Joseph lineage in MJD families and controls JC6 and JC2. Underlined are the alleles that differ from the Machado lineage in the other Yemenite-Jewish controls
aSNPs previously studied (haplotypes TTACAC and GTGGCA for Joseph and Machado lineages, respectively)