Table 5.
Sequence Variants Identified from Known Genes in the VWS Critical Region
| Gene | Primers (5′ → 3′) | Containing structure | Position | Alleles | Observed frequency (%) | ||||||
| major | minor | ||||||||||
| LAMB3 | F-CACAGTGGCAGATGAAATGC | exon 4 | 411 | TCC(S) | TCA(S) | N.D. | |||||
| R-TCCCGTAGATGGCAAATGCT | |||||||||||
| LAMB3 | F-GGTGGGGCCTTCTTGATG | exon 17 | 2668 | ATG(M) | TTG(L) | 29 | |||||
| R-TCTGCCTCCTCCTACCTGTG | |||||||||||
| LAMB3 | F-CCACGATGTCTGTGTCTG | intron 9 | +52 | CCCC | CGCC | 7.1 | |||||
| R-AGGTGAGATCATCAAGGCCTAGA | |||||||||||
| HSD11 | F-ACCCTACTCTTCCCTTGTCATT | exon 6 | 838 | GGG(G) | GGC(G) | 0.4 | |||||
| R-GAAATTCCAGGATCTTCCTGC | |||||||||||
-
↵Observed frequency of minor allele based on genotyping at least 50 samples from unrelated individuals; (N.D.) not determined
-
↵Nucleotide position in the cDNA (GenBank accession no.L25541), designating the first nucleotide of the start codon as position 1.
-
↵Previously reported (Pulkkinen et al. (1995).
-
↵Located 52 nucleotides from the end of exon 9.
-
↵Offset with respect to boundary of exon 6 of HSD11 (GenBank accession no. M76665).
