Table 1.
FMR1 Allele Characterization
| Sample ID | Sex | Repeat no.∗ | % Methylation | AGGs |
|---|---|---|---|---|
| GM06897 | M | 240-570 (Smear) | 5 | Y |
| GM09145 | M | 660 | 97 | N |
| GM04025 | M | 645 | 110/77† | N |
| GM03200 | M | 570 | 112 | N |
| GM09237 | M | 940 | 111 | N |
| GM07294 | M | 745 | 94 | N |
| C10700 | M | 350, 780, 1075 | 89 | Y |
| C10259 | M | 930 | 102 | Y |
| SC128 | M | 210 | 98 | N |
| FX-1 | M | 218, 340, 410, 510 | 57 | N |
| FX-2 | M | 240, 250, 410 | 75 | Y |
| FX-3 | M | 202, 310, 360, 490, 560, 750 | 102 | N |
| FX-4 | M | 164, 177, FM smear | 43 | N |
| WCMC37 | M | 410, 510 | 85 | N |
| MC37B‡ | M | 100, 185, 330, 410, 510 | 110 | N |
| F20729 | M | 285, >400 | 106 | Y |
| F23856 | F | 30, >200 | 53 | Y, Y |
| F23690 | F | 31, 240, 250, 310 | 63 | Y, Y |
| F10149 | M | 94 | 3 | Y |
| F15608 | M | 101 | 9 | Y |
| F006 | F | 29, 92 | 55 | Y, Y |
| HT-51E§ | F | 29, 92 | 47 | Y, Y |
| SC120 | M | 97 | 4 | N |
| A8018¶ | F | 30, 30 | 55 | Y, Y |
| A8020¶ | M | 52 | 1 | Y |
| A7306 | F | 30, 52 | 64 | Y, Y |
| F23297 | F | 23, 31 | 50 | Y, Y |
| F23656 | F | 24, 30 | 63 | Y, Y |
| SB5 | F | 30, 30 | 48 | Y, Y |
| H1 | M | 31 | 6 | Y |
| GM06865 | M | 30 | 5 | Y |
F, female; M, male; FM, full mutation; N, no AGG interruptions; Y, at least one interruption in each allele.
∗
All full mutation allele sizes are approximate because of the limits of resolution of agarose gels and capillary gel electrophoresis.
†
The different methylation percentages reflect the extent of methylation in untreated cells versus cells treated with 5-azadeoxycytidine.
‡
Subclone of WCMC37 embryonic stem cell line.
§
HT-51E is an induced pluripotent stem cell line derived from F006 fibroblasts.
¶
A8018 and A8020 are the mother and father of the A7306 daughter.