Table 1.
Allele and genotype frequencies for common red blood cell (RBC) polymorphisms in Papua New Guinea
| HBA1* | Counts | % | SLC4A1† | Counts | % | GYPC‡ | Counts | % | CR1 ex22§ | Counts | % | CR1 HindIII¶ | % | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (N = 206) | (N = 206) | (N = 206) | (N = 206) | (N = 205) | Counts | ||||||||||
| Genotype | wt/wt | 31 | 15.0 | wt/wt | 179 | 86.9 | wt/wt | 152 | 73.8 | A/A | 31 | 15.0 | H/H | 35 | 17.1 |
| wt/α−4.2 | 86 | 41.7 | wt/Δ27 | 27 | 13.1 | wt/Δex3 | 46 | 22.3 | A/G | 84 | 40.8 | H/L | 83 | 40.5 | |
| wt/α−3.7 | 7 | 3.4 | Δ27/Δ27 | 0 | 0.0 | Δex3/Δex3 | 8 | 3.9 | G/G | 91 | 44.2 | L/L | 87 | 42.4 | |
| α−4.2/α−4.2 | 71 | 34.5 | |||||||||||||
| α−4.2/α−3.7 | 10 | 4.9 | |||||||||||||
| α−3.7/α−3.7 | 1 | 0.5 | |||||||||||||
HBA1 = α-globin locus name, allele names α−4.2 and α−3.7 refer to the Melanesian deletions (4.2 kb and 3.7 kb, respectively) that eliminate one α-globin gene locus. These deletions are associated with α+-thalassemia.
SLC4A1 = solute carrier family 4 (Anion exchanger), member 1, RBC band 3. Allele name Δ27 refers to the Melanesian 27 nucleotide deletion, codons 400–408.
GYPC = glycophorin C locus name, allele name GYPCΔex3 refers to the Melanesian deletion of GYPC exon 3 associated with Gerbich blood group negativity.
CR1ex22 = complement receptor 1 exon 22 SNP at nucleotide 3650, allele names 3650A associated with higher, 3650G associated with lower CR1 RBC surface expression.
CR1HindIII = complement receptor 1 intron 27 HindIII RFLP, allele names H (7.4 kb genomic restriction fragment) associated with higher, L (6.9 kb genomic restriction fragment) associated with lower CR1 RBC surface expression.