MDR-1 Exon/Position | Nucleotide Sequence | Effect | Placental cDNA (n = 100) | Genome DNA (n = 48) | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Wild Type (WT) | Mutation (M) | Genotype | Allele Frequency | Genotype | Allele Frequency | |||||||||
W/W | W/M | M/M | W | M | W/W | W/M | M/M | W | M | |||||
% | % | |||||||||||||
A-41aG | 5′-flanking/−41 | cccaAtgat | cccaGtgat | Noncoding | 40 | 7 | 1 | 90.6 | 9.4 | |||||
C-145G | 1a/−145 | gaagCctag | gaagGctag | Noncoding | 95 | 5 | 0 | 97.5 | 2.5 | 47 | 1 | 0 | 99.0 | 1.0 |
T-129C | 1b/−129 | cgagTagcg | cgagCagac | Noncoding | 88 | 12 | 0 | 94.0 | 6.0 | 41 | 6 | 1 | 91.7 | 8.3 |
T1236C | 12/1236 | agggTctga | agggCctga | Gly412Gly | 50 | 31 | 19 | 65.5 | 34.5 | 21 | 20 | 7 | 64.6 | 35.4 |
G2677T | 21/2677 | aggtGctgg | aggtTctgg | Ala893Ser | 14 (G/G) | 35 (G/T) | 16 (T/T) | 43.0 | 39.0 (T) | 9 (G/G) | 8 (G/T) | 10 (T/T) | 36.5 | 41.7 (T) |
G2677A | aggtActgg | 893Thr | 23 (G/A) | 1 (A/A) | 18.0 (A) | 9 (G/A) | 0 (A/A) | 21.8 (A) | ||||||
11 (A/T) | 12 (A/T) | |||||||||||||
A2956G | 24/2956 | tgccAtggc | tgccGtggc | Met986Val | 99 | 1 | 0 | 99.5 | 0.5 | 48 | 0 | 0 | 100.0 | 0.0 |
C3435T | 26/3435 | agatCgtga | agatTgtga | Ile1145Ile | 35 | 46 | 19 | 58.0 | 42.0 | 14 | 21 | 13 | 51.0 | 49.0 |
G4030C | 28/4030 | gagaGaaat | gagaCaaat | Noncoding | 99 | 1 | 0 | 99.5 | 0.5 | 48 | 0 | 0 | 100.0 | 0.0 |
A4036G | 28/4036 | aatcAtagt | aatcGtagt | Noncoding | 47 | 45 | 8 | 69.5 | 30.5 | 29 | 14 | 5 | 75.0 | 25.0 |