TABLE 1.
CBS MarkerAllele Frequencies in Controls*
| Allele frequencies in different populations | ||||||
|---|---|---|---|---|---|---|
| African control populations | ||||||
| Marker | Czech controls | African controls | Fon | Dendi | Berba | Bariba |
| Number of chromosomes | 400 | 380 | 100 | 100 | 80 | 100 |
| c.-3792G>A | 0.01 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| c.699C>T | 0.32 | 0.20 | 0.17 | 0.24 | 0.15 | 0.24 |
| c.833T>C | 0.07 | 0.33 | 0.33 | 0.30 | 0.36 | 0.24 |
| c.844_845ins68 | 0.07 | 0.33 | 0.33 | 0.30 | 0.36 | 0.24 |
| C.1080C>T | 0.42 | 0.00 | 0.00 | 0.00 | 0.01 | 0.00 |
| c.1444_1467+7(16)a | 0.002 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| C.1444_1467+7(17) | 0.07 | 0.22 | 0.29 | 0.15 | 0.24 | 0.21 |
| C.1444_1467+7(18) | 0.77 | 0.26 | 0.23 | 0.27 | 0.20 | 0.33 |
| C.1444_1467+7(19) | 0.11 | 0.19 | 0.12 | 0.16 | 0.15 | 0.13 |
| C.1444_1467+7(21) | 0.05 | 0.38 | 0.36 | 0.42 | 0.41 | 0.33 |
| c.*543T>C (known as c.1985T>C) | 0.46 (C) | 0.12 (T) | 0.14 (T) | 0.14 (T) | 0.13 (T) | 0.07 (T) |
With the exception of the VNTR polymorphism, the marker frequencies are given as minor allele frequencies. The cDNA sequence numbering is based on GenBank reference sequence NM_000071.1 (the first adenosine in the initiator ATG is designated as + 1), genomic DNA numbering is based on GenBank reference sequence NC_000021.7 and the numbering of the 31-bp c.1444_1467+7(16.21) VNTR is based on a published report [Lievers et al., 2001]. For an overview of polymorphisms in the CBS gene, see [Kožich and Kraus, 2001].
The length of the individual VNTR motifs is invariably 31 bp; however, different single-nucleotide substitutions may be present within the repeat units, as described previously by Lievers et al. [2001].