Haplotypes encompassing AAAS in nine unrelated patients (P1–P9) sorted according to the length of sharing on the centromeric (left in table) side of the mutation
| Patient | D12S 85 | D12S 1701 | D12S 368 | D12S 96 | D12S 359 | D12S 1604 | AAAS | D12S 1586 | D12S 1707 | D12S 1691 | D12S 90 | D12S 83 | D12S 1702 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| The parts of the ancestral haplotype shared homozygously by all patients are indicated in bold italics and those shared by a subset of patients are indicated in italics. | |||||||||||||
| *Physical distance in Mb obtained from www.ncbi.nlm.nih.gov. The genetic distance between D12S85 and D12S1702 is 15.9 cM. | |||||||||||||
| †θ is the recombination rate between AAAS and the markers shown and was estimated using the correspondence 0.712 cM for 1 Mb over the whole region and Kosambi mapping function (see text). | |||||||||||||
| ‡Freq is the frequency of the marker allele shared by the patients (shown in italics) which was estimated from a sample of 30 unrelated subjects of north African origin. | |||||||||||||
| P1 | 1 | 2 | 1 | 1 | 1 | 5 | IVS14+1G→A | 3 | 1 | 1 | |||
| P2 | 5 | 2 | 1 | 1 | 1 | 5 | IVS14+1G→A | 3 | 1 | 6 | 2 | 1 | 2 |
| P3 | 4 | 2 | 1 | 1 | 1 | 5 | IVS14+1G→A | 3 | 1 | 3 | |||
| P4 | 1 | 1 | 1 | 1 | 5 | IVS14+1G→A | 3 | 4 | |||||
| P5 | 2 | 1 | 1 | 5 | IVS14+1G→A | 3 | 2 | ||||||
| P6 | 4 | 1 | 1 | 5 | IVS14+1G→A | 3 | 1 | 6 | 2 | 1 | 3 | ||
| P7 | 2 | 1 | 1 | 5 | IVS14+1G→A | 3 | 1 | 4 | |||||
| P8 | 3 | 1 | 5 | IVS14+1G→A | 3 | 2 | |||||||
| P9 | 2 | 1 | 5 | IVS14+1G→A | 3 | 3 | |||||||
| Mb* | 49.18 | 49.78 | 54.98 | 55.52 | 56.51 | 56.53 | 56.54 | 56.92 | 57.76 | 60.47 | 61.46 | 64.02 | 71.51 |
| θ † | 0.0508 | 0.0466 | 0.0108 | 0.0070 | 0.0002 | 0.0001 | 0.0026 | 0.0084 | 0.0271 | 0.0339 | 0.0516 | 0.1032 | |
| Freq‡ | 0.42 | 0.01 | 0.02 | 0.27 | 0.22 | 0.19 | 0.46 | 0.21 | 0.07 | 0.04 | |||