|
Polymorphism in non-coding regions and haplotype association |
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| Polymorphism |
Number of samples carrying a |
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|
|
|
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| DNA segment |
position |
Haplotype association |
double peak * |
single peak * |
|
|
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| Intron 1 |
-28G > C |
DCe†, Dce, DcE |
14 |
9 |
| Intron 6 |
28C > T |
RHDΨ ce ‡ |
4 |
3 |
| Exon 10, 3' UTR |
1347A > G |
Dce |
6 |
1 |
| Intron 2 |
51C > T |
Ccdes§ |
3 |
2 |
| Intron 2 |
135A > G |
Ccdes§ |
3 |
2 |
| Intron 2 |
-26G > A |
Ccdes§ |
3 |
2 |
| Intron 2 |
36A > G |
Dce or DAU-0ce |
1 |
0 |
| Intron 5 |
12G > A |
DcE or RHD(384T > C)ce or Dce or RHD(384T > C)cE |
1 |
0 |
| Exon 10, 3' UTR |
1377G > A |
Dce or DAU-0ce |
1 |
0 |
|
* The presence of a double peak in the electropherogram indicates another RHD allele in trans. A single peak may indicate the presence of an RHD deletion in trans, the homozygous presence of an allele with the given polymorphism, or – in case of intron 1 position -28 – the presence of Ccdes in trans. † -28G > C was present in all 13 DCe haplotypes, but only in 13 of 43 Dce and 1 of 8 DcE haplotypes. ‡ Present in all RHDΨ donors. § Present in all Ccdes donors. | ||||
Wagner et al. BMC Genetics 2003 4:14 doi:10.1186/1471-2156-4-14 |
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