Table 1.
Y-Chromosome Biallelic Polymorphisms Analyzed and Their Allele Frequencies in Northwestern Africa
| Polymorphismaand Allele | Frequency | Type | Method | References |
| 92R7: C T | 124 (.961)5 (.039) | Base substitution | HindIII site loss, PCR | Mathias et al. (1994) |
| SRY-2627: C T | 129 (1)0 (0) | Base substitution | BanI site loss, PCR | Bianchi et al. (1997); Santos et al. (1999a) |
| SRY-1532: A G | 0 (0)129 (1) | Base substitution | DraIII site gain, PCR | Whitfield et al. (1995); Kwok et al. (1996); Santos et al. (1999a) |
| YAP:b 0 1 | 24 (.186)105 (.814) | Alu insertion | PCR | Hammer (1994); Hammer and Horai (1995) |
| Poly (A) tail:c L S | 1 (.010)104 (.990) | Poly (A) tail–length polymorphism | PCR | Hammer (1995); Hammer et al. (1997) |
| SRY-8299: G A | 24 (.186)105 (.814) | Base substitution | BsrBI site loss, PCR | Whitfield et al. (1995); Santos et al. (1999a) |
| sY81: A G | 123 (.953)6 (.047) | Base substitution | NlaIII site loss, PCR | Seielstad et al. (1994) |
| M9:d C G | 123 (.953)6 (.047) | Base substitution | PCR, DHPLCe | Underhill et al. (1997) |
| 12f2:d 10 kb 8 kb | 114 (.884)15 (.116) | Duplication/deletion | TaqI (EcoRI), filter hybridization | Casanova et al. (1985) |
| 50f2 P:d 8.5 kb 3.1 kb | 129 (1)0 (0) | Base substitution | TaqI, filter hybridization | Guellaen et al. (1984) |
| 50f2 I:d 8.5 kb 4 kb | 129 (1)0 (0) | Base substitution | TaqI, filter hybridization | Guellaen et al. (1984) |
For each biallelic polymorphism, the ancestral state is presented above the derived state.
For the YAP polymorphism, “0” denotes absence of the Alu sequence and “1” denotes presence of the Alu sequence.
The poly (A) tail–length polymorphism is found within the YAP element, and four different alleles have been described so far. Of those, we found two—S (small, 26 bp) and L (large, 46 bp)—in our sample. Their frequencies are given with respect to the total number of YAP-positive chromosomes.
Only YAP-negative individuals were tested for these polymorphisms. YAP-positive individuals were presumed to have polymorphisms M9 C, 12f2 10 kb, 50f2 P 8.5 kb, and 50f2 I 8.5 kb.
DHPLC = denaturing high-performance liquid chromatography.