TABLE 1

Genetic polymorphism in the BCRP gene in Japanese placentas (n = 100)


Location

Positiona

Reference Alleleb

Variant Allele

Amino Acid Substitution

Genotype

Frequency of Variant Allele
R/R
R/V
V/V
5′-Flanking region -20445 gtctCctcc gtctTctcc 98 2 0 0.010
-20296 agctAttaa agctGttaa 80 18 2 0.110
-19781 aaaaAttat aaaaGttat 99 1 0
-19572_-19569 ctcaCTCAcaaa ctca—caaa 60 33 7 0.235
Exon 2 34 cccaGtgtc cccaAtgtc Val12Met 70 24 6 0.180
Intron 2 203 + 16 tttaAttta tttaGttta 70 24 6 0.180
Intron 3 263 + 10 tataAgaga tataGgaga 85 14 1 0.080
263 + 72 ttttGtgtg ttttTGtgtg 99 1 0 0.005
Exon 4 376 ggtaCaagt ggtaTaagt Gln126stop 98 2 0 0.010
Exon 5 421 cttaCagtt cttaAagtt Gln141Lys 42 45 13 0.355
Intron 5 532-16 ttatAatat ttatGatat 99 1 0 0.005
Exon 9 1098 aggaGatca aggaAatca Synonymous 98 2 0 0.010
Intron 10 1277 + 95 atagTgtaa atagAgtaa 97 3 0 0.015
Exon 11 1322 agcaGtgtt agcaAtgtt Ser441Asn 99 1 0 0.005
Intron 11 1367 + 20 ttctAggaa ttctGggaa 71 25 4 0.165
Exon 12 1465 tataTttac tataCttac Phe489Leu 99 1 0 0.005
Intron 12 1492 + 49 ctatGggtg ctatCggtg 44 45 11 0.335
Exon 13 1515 atgcCttct atgc-ttct Phe506Ser 99 1 0 0.005
Phe507Leu
Val508Leu
Met509stop
Intron 13 1648-42 tgaaAttac tgaaTttac 99 1 0 0.005
1648-21 gactCttag gactTttag 71 25 4 0.165
Intron 14 1738-46 tcttAaaat tcttGaaat 24 52 24 0.500
3′-UTR 2332 cttcAgtct cttcTAgtct 86 14 0 0.070
2364 tgccAttat tgccCttat 99 1 0 0.005

2512
agaaCttac
agaaTttac

99
1
0
0.005
  • R, reference allele; V, variant allele.

  • a Position is in respect to the translation start site of the BCRP gene; the A in ATG is + 1 and the base immediately 5′ is -1.

  • b Reference allele: GenBank/EMBL accession no. AC084732.