Table 3.
Sequence Variation in the Polymorphic Region Upstream of the β-Globin Gene
|
Polymorphic Site |
||||||||||||||
| ObservedFrequencya | SampleEstimated Frequency | HinfI-RsaIHaplotype | HbStatus | −1069b | −989 | −780 | −710 | −703 | −551 | −543 | −521 | −491 | −568 | (AT)x Tyc |
| 1 | .012 | 1 | A | A | G | A | T | C | T | C | C | A | 2 | 8–6 |
| 1 | .012 | 1 | A | * | G | A | T | T | T | C | C | A | 2 | 8–6 |
| 4 | .047 | 1 | A | G | G | A | T | T | T | C | C | A | 2 | 8–5 |
| 4 | .047 | 1 | A | * | G | A | T | T | T | T | C | C | 2 | 8–4 |
| 1 | .012 | 1 | A | * | G | A | T | C | T | C | C | C | 2 | 7–7 |
| 1 | .012 | 1 | A | G | G | A | T | T | T | C | C | A | 2 | 7–7 |
| 1 | .012 | 1 | A | G | G | A | T | C | T | T | C | A | 2 | 7–6 |
| 22 | .116 | 2 | S | G | C | A | G | T | T | C | T | A | 2 | 8–4 |
| 4 | .061 | 3 | A | * | C | A | T | T | T | C | C | A | 2 | 9–4 |
| 2 | .031 | 3 | A | G | C | A | T | C | T | C | C | A | 2 | 8–5 |
| 3 | .046 | 3 | A | * | C | A | T | T | T | C | C | A | 2 | 8–5 |
| 1 | .015 | 3 | A | * | C | A | G | T | T | C | T | A | 2 | 8–4 |
| 3 | .046 | 3 | A | * | C | T | T | T | T | T | C | C | 2 | 8–4 |
| 1 | .015 | 3 | A | * | C | T | T | T | T | C | C | C | 2 | 8–4 |
| 2 | .031 | 3 | A | * | C | A | G | T | T | C | C | A | 2 | 7–6 |
| 1 | .015 | 3 | A | A | C | A | G | T | T | C | C | A | 2 | 7–7 |
| 2 | .031 | 3 | A | * | C | A | T | C | T | C | C | A | 2 | 7–7 |
| 1 | .015 | 3 | A | A | C | A | T | C | T | C | C | C | 2 | 7–7 |
| 2 | .031 | 3 | A | * | C | A | T | C | T | T | C | C | 2 | 7–7 |
| 1 | .015 | 3 | A | * | C | A | T | T | T | C | C | A | 2 | 7–7 |
| 4 | .061 | 3 | A | * | C | A | T | C | T | T | C | C | 2 | 7–6 |
| 1 | .015 | 3 | A | * | C | A | G | T | T | C | T | A | 2 | 7–6 |
| 3 | .046 | 3 | A | * | C | A | T | T | T | T | C | C | 3 | 6–8 |
| 1 | .015 | 3 | A | * | C | A | T | T | T | T | C | C | 2 | 6–8 |
| 1 | .015 | 3 | A | * | C | A | T | C | T | T | C | C | 2 | 5–9 |
| 1 | .005 | 4 | A | * | G | A | T | C | C | C | C | A | 2 | 9–5 |
| 1 | .005 | 4 | A | * | G | A | T | C | C | C | C | A | 2 | 8–5 |
| 7 | .036 | 4 | A | G | G | A | T | T | C | C | C | A | 2 | 7–7 |
| 3 | .016 | 4 | A | * | G | A | T | T | C | C | C | A | 2 | 6–9 |
| 1 | .012 | 5 | A | G | C | A | T | C | C | C | C | A | 2 | 8–5 |
| 3 | .035 | 5 | A | G | C | A | T | T | C | C | C | A | 2 | 7–7 |
| 6 | .071 | 5 | A | * | C | A | T | C | C | C | C | A | 2 | 7–7 |
| 1 | .012 | 5 | A | * | C | A | G | T | C | C | T | A | 2 | 7–6 |
| 2 | .024 | 5 | A | A | C | A | T | T | C | C | C | A | 2 | 6–9 |
| 1 | .012 | 5 | A | G | C | A | T | C | C | C | C | A | 2 | 6–7 |
a
Total observed frequency = 94.
b
Asterisk indicates that the gametic phase has not been determined for the chromosomes at this position. Therefore, the nucleotide at position −1069 can be either A or G.
c
Microsatellite.