Table 1. c.4338_4339delCT- and c.2299delG-associated USH2A haplotypes based on 15 intragenic SNPs.
Patients | |||
---|---|---|---|
148, 326, 415, 711, 782, 840 | 415 | ||
SNP | Exon | c.4338_4339delCT haplotype | c.2299delG haplotype |
rs10779261a | 2 | G | A |
rs4253963a | 3 | A | G |
rs1805050a | 8 | T | C |
rs7515253 | IVS9 | C | A |
rs1324330a | IVS15 | G | A |
rs646094 | IVS17 | G | T |
rs447102 | IVS18 | A | G |
rs386851 | IVS18 | C | C |
rs1805049a | 21 | G | A |
rs6657250 | 32 | C | C |
rs10864219 | 34 | C | T |
rs10864198 | 52 | C | A |
rs11120616 | 59 | T | C |
rs35309576 | 60 | G | A |
rs2820718 | 61 | A | G |
Abbreviation: SNP, single nucleotide polymorphism.
Acadian patients: 148, 326, and 840; French Canadians from Quebec: 415, 711, and 782.
SNPs that have previously been used to define the ancestral haplotype associated with c.2299delG which is frequent in many populations.