Table 1.
Genotypes for novel exon 16 polymorphism, intron 39 in/del polymorphism and exon 40 mutation
| ID | PHENOTYPE/RELATIONSHIP | SAMPLE SOURCE | Ex16 (Ser592Asn)* | Intron 39 in/del (rs17882240)* | Ex40 (Arg1968>X)* |
|---|---|---|---|---|---|
| I-1 | Unaffected uncle | Lymphoblast | 1,1 | 1,2 | 1,1 |
| I-3 | Unaffected mother | Lymphoblast | 1,2 | 1,1 | 1,1 |
| II-1 | Unaffected twin | Lymphoblast #1 | 1,2 | 1,1 | 1,2 |
| Lymphoblast #2 | 1,2 | 1,2 | |||
| Blood | 1,2 | 1,2 | |||
| Buccal #1 | 1,2 | 1,2 | |||
| Buccal #2 | 1,2 | 1,2 | |||
| Fibroblast #1 | 1,2 | 1,1 | 1,1 | ||
| Fibroblast #2 | 1,2 | 1,1 | 1,1 | ||
| II-2 | Affected twin | Lymphoblast #1 | 1,2 | 1,1 | 1,2 |
| Lymphoblast #2 | 1,2 | 1,2 | |||
| Blood | 1,2 | 1,2 | |||
| Buccal #1 | 1,2 | 1,2 | |||
| Buccal #2 | 1,2 | 1,2 | |||
| Fibroblast #1 | 1,2 | 1,1 | 1,2 | ||
| Fibroblast #2 | 1,2 | 1,1 | 1,2 | ||
| II-3 | Unaffected sibling | Lymphoblast | 1,1 | 1,2 | 1,1 |
| II-4 | Unaffected sibling | Lymphoblast | 1,1 | 1,2 | 1,1 |
| III-1 | Unaffected son of II-1 | Lymphoblast #1 | 1,1 | 1,1 | 1,1 |
| Lymphoblast #2 | 1,1 | 1,1 | 1,1 | ||
| III-3 | Affected daughter of II-2 | Lymphoblast | 1,2 | 1,2 | |
| Blood | 1,2 | 1,2 |
*
Allele assignments are the same in Table 1 as represented in Figure 1.