Factor V Haplotype Distribution for Normal Subjects and for Subjects With Homozygous APC-Resistance Based on Use of Six Dimorphisms in Exons 2, 4, 9, 11, 13, and 16
| Haplotype . | Controls (nt G1691) . | Homozygous (nt A1691) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| . | Exon 2 . | Exon 4 . | Exon 9 . | Exon 11 . | Exon 13 . | Exon 16 . | Alleles (N) . | Fraction . | Alleles (N) . | Fraction . |
| a | − | − | + | + | + | + | 83 | 0.488 | 204 | 0.879 |
| b | + | − | + | + | + | + | 25 | 0.147 | 18 | 0.078 |
| c | − | + | + | + | + | + | 24 | 0.141 | 8 | 0.034 |
| d | − | − | + | + | − | − | 17 | 0.100 | 1 | 0.004 |
| e | − | − | + | + | + | − | 4 | 0.024 | 1 | 0.004 |
| f through n Comprising 9 additional haplotyes | 17 | 0.100 | 0 | 0 | ||||||
| Haplotype . | Controls (nt G1691) . | Homozygous (nt A1691) . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| . | Exon 2 . | Exon 4 . | Exon 9 . | Exon 11 . | Exon 13 . | Exon 16 . | Alleles (N) . | Fraction . | Alleles (N) . | Fraction . |
| a | − | − | + | + | + | + | 83 | 0.488 | 204 | 0.879 |
| b | + | − | + | + | + | + | 25 | 0.147 | 18 | 0.078 |
| c | − | + | + | + | + | + | 24 | 0.141 | 8 | 0.034 |
| d | − | − | + | + | − | − | 17 | 0.100 | 1 | 0.004 |
| e | − | − | + | + | + | − | 4 | 0.024 | 1 | 0.004 |
| f through n Comprising 9 additional haplotyes | 17 | 0.100 | 0 | 0 | ||||||
A positive sign indicates cleavage by the restrictive enzyme used for each dimorphism (see Fig 1 and Table 1). The 167 normal subjects (nt G1691) presented 170 informative and 164 uninformative alleles, whereas the 117 APC-resistant subjects (nt A1691) gave 232 informative and 2 uninformative alleles.