Haplotype Studies in Controls and Patients
| . | Polymorphisms and Haplotypes . | |||||
|---|---|---|---|---|---|---|
| . | . | . | . | . | . | . |
| . | Exon 13 . | Exon 16 . | ||||
| . | . | . | . | . | . | . |
| . | 2298 C/T . | 2325 T/C . | 2379 A/G . | 2391 A/G . | 4070 A(R1)/G(R2) . | 5380 A/G . |
| . | 708 Ile . | 717 Asn . | 735 Gln . | 739 Ser . | 1299 His/Arg . | 1736 Met/Val . |
| . | HinfI . | HinfI . | EcoRI . | Taq I . | Rsa I . | — . |
| Subject No. . | ||||||
| Somali (1) | C | T | G | A | G | G |
| C | T | A | A | A | A | |
| Indian (33) | CC | TT | GG | AA | GG | GG |
| Indian (11) | C | T | G | A | G | G |
| T | C | A | G | A | G | |
| Patient SB | C | T | G | A | G | G |
| C | T | A | A | A | A | |
| Patient BA | CC | TT | GG | AA | GG | GG |
| . | Polymorphisms and Haplotypes . | |||||
|---|---|---|---|---|---|---|
| . | . | . | . | . | . | . |
| . | Exon 13 . | Exon 16 . | ||||
| . | . | . | . | . | . | . |
| . | 2298 C/T . | 2325 T/C . | 2379 A/G . | 2391 A/G . | 4070 A(R1)/G(R2) . | 5380 A/G . |
| . | 708 Ile . | 717 Asn . | 735 Gln . | 739 Ser . | 1299 His/Arg . | 1736 Met/Val . |
| . | HinfI . | HinfI . | EcoRI . | Taq I . | Rsa I . | — . |
| Subject No. . | ||||||
| Somali (1) | C | T | G | A | G | G |
| C | T | A | A | A | A | |
| Indian (33) | CC | TT | GG | AA | GG | GG |
| Indian (11) | C | T | G | A | G | G |
| T | C | A | G | A | G | |
| Patient SB | C | T | G | A | G | G |
| C | T | A | A | A | A | |
| Patient BA | CC | TT | GG | AA | GG | GG |
The nucleotide changes, the restriction enzymes, and the haplotypes determined in selected subjects and patients are reported. Homozygous genotypes are reported on a single line and heterozygous genotypes are represented on two lines. The HR2 haplotype is indicated in bold. Patient SB, Italian patient doubly heterozygous for the HR2 haplotype and the R506Q mutation (haplotype indicated by italics). Patient BA, functionally APC-resistant Italian patient.