Table 1.
Marker | Mb |
Family PED25 |
VSM-20 (a) |
VSM-20 (b) |
|||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
9685 |
9686 |
9548 |
9707 |
9698 |
9697 |
||||||||||||
a1 | a2 | a1 | a2 | a1 | a2 | a1 | a2 | a1 | a2 | a1 | a2 | a1 | a2 | a1 | a2 | ||
D9S171 | 24.53 | 167 | 185 | 167 | 167 | 167 | 185 | 167 | 167 | 167 | 185 | 167 | 185 | 185 | 183 | 185 | 185 |
D9S1679 | 24.78 | 135 | 135 | 131 | 137 | 131 | 135 | 131 | 135 | 131 | 135 | 137 | 135 | 135 | 135 | 135 | 131 |
D9S259 | 26.02 | 288 | 292 | 288 | 280 | 288 | 292 | 288 | 288 | 288 | 292 | 280 | 292 | 288 | 280 | 288 | 288 |
D9S2154 | 26.17 | 138 | 150 | 142 | 148 | 142 | 150 | 142 | 138 | 142 | 150 | 146 | 150 | 146 | 150 | 146 | 134 |
rs4879515∗ | 27.48 | C | C | T | C | T | C | T | C | T | C | C | C | T | T | T | C |
rs3849942∗ | 27.54 | G | G | A | G | A | G | A | G | A | G | G | G | A | A | A | G |
C9orf72∗ | 27.57 | 2 | 2 | EXP | 2 | EXP | 2 | EXP | 2 | EXP | 2 | 2 | 2 | EXP | 2 | EXP | 5 |
D9S161 | 27.63 | 119 | 127 | 119 | 127 | 119 | 119 | 119 | 127 | 119 | 119 | 127 | 119 | 117 | 117 | 117 | 129 |
D9S319 | 29.56 | 159 | 159 | 163 | 171 | 163 | 159 | 163 | 159 | 163 | 159 | 171 | 159 | 167 | 167 | 167 | 163 |
Segregation of the repeat expansion in C9orf72 and genetic markers flanking the area of the repeat expansion was observed in family PED25. The “C9orf72” row displays the number of repeats on allele 1 (a1) and allele 2 (a2). Repeat expansions are indicated with “EXP.” Asterisks denote the shared C9orf72 risk haplotype.