Table 3. Genotypes at four microsatellite markers flanking the CYP1B1 candidate region and three intragenic CYP1B1 single nucleotide polymorphisms in patients with Glu229Lys and Arg368His variants

Each number under a microsatellite marker column represents an allele. As can be seen from the genotypes at four microsatellite marker loci, some patients with either of the variants did not share alleles. For example, patients 168 and 179 with Glu229Lys did not share alleles at D2S177, D2S1346, and D2S2331. Although single nucleotide polymorphisms (SNPs) are less polymorphic than microsatellite markers, patients 54 and 73 did not share alleles at c.142C>G. Similarly, patients 7 and 38 with Arg368His did not share alleles at D2S177, D2S1346, and D2S2331. However, alleles at three SNP loci were not useful to determine nonsharing of alleles for Arg368His. Overall, the results suggest multiple origins for both variants.