Table 5.
Markers | Carrier (+)/Non carrier (-) | ||||
Probands | D13S290 | D13S171 | D13S1695 | ||
Family 14 | |||||
BR6 | 5-5 | 4-2 | 2-5 | + | |
BR73 | 5-1 | 2-2 | 5–6 | - | |
BR82 | 5-1 | 4-2 | 2-6 | + | |
Family 161 | |||||
BR195 | 5-5 | 4-2 | 2-4 | + | |
BR285 | 5-5 | 4-2 | 2-4 | + | |
BR289 | 5-2 | 2-1 | 4–6 | - | |
Family 190 | |||||
BR243 | 5-3 | 4-4 | 2-4 | + | |
BR290 | 5-5 | 4-5 | 2-6 | + | |
BR291 | 3–5 | 4–5 | 4–5 | - | |
Isolated cases | |||||
BR60 | 5,5 | 4,4 | 2,1 | + | |
BR85 | 5,5 | 4,2 | 2,5 | + | |
BR312 | 5,5 | 4,2 | 2,3 | + |
Numbers in boldface type indicate the IVS16-2A>G mutation alleles. Haplotype segregating with the IVS16-2A>G mutation alleles of phased alleles are separated by a dash. Genotypes of unphased alleles are separated by a comma.