Disease haplotype of four familial BHD cases showed that they did not share the same affected alleles. Matching mutation analysis results are also included. BHD is located between D17S740 and D17S2196. Bold numbers represent the affected haplotype
| Family | ||||
|---|---|---|---|---|
| Markers | S001 | S002 | 518 | 598 |
| D17S1857 | 3/4 | 7/1 | 4/6 | 3/4 |
| D17S740 | 2/2 | 2/5 | 2/1 | 3/3 |
| D17S2196 | 6/5 | 3/1 | 3/6 | 2/5 |
| D17S620 | 1/1 | 3/3 | 3/1 | 1/1 |
| Mutation | None | 1733insC | 1733delC | 1733delC |