Table 3.
Analysis of Shared Haplotypes Bearing AR Mutations
| Mutation (Gene) |
Heterozygotes |
Homozygotes |
|||||||
|---|---|---|---|---|---|---|---|---|---|
| n | Kinship Coefficient (Mean [Min, Max]) | Consensus Length (bp) | Consensus Length (SNPs) | n | Kinship Coefficient (Mean [Min, Max]) | Consensus Length (bp) | Consensus Length (SNPs) | Mismatches Allowed | |
| p.Asp487Asn (TRIM32) | 189 | 0.049 (0.01, 0.30) | 449,953 | 90 | 8 | 0.054 (0.02, 0.29) | 2,553,354 | 417 | 2 |
| p.Cys91Tyr (TYR) | 155 | 0.049 (0.01, 0.30) | 4,086,749 | 416 | 3 | 0.046 (0.03, 0.07) | 15,476,024 | 1812 | 1 |
| exon 7 del (SMN1) | 177 | 0.053 (0.01, 0.29) | 2,834,415 | 84 | 2 | 0.027 (0.03, 0.03) | 9,990,562 | 917 | 3 |
| p.Leu276Ile (FKRP) | 116 | 0.051 (0.01, 0.29) | 1,433,672 | 48 | 3 | 0.079 (0.04, 0.16) | 8,695,515 | 444 | 2 |
| p.Ser107Ter (ABCG8) | 117 | 0.057 (0.01, 0.29) | 2,120,092 | 290 | 4 | 0.134 (0.07, 0.28) | 9,041,651 | 500 | 2 |
| p.Arg18Ter (TMEM237) | 106 | 0.052 (0.01, 0.30) | 3,666,069 | 336 | 0 | − | − | − | 2 |
| p.Met1101Lys (CFTR)a | 98 | 0.055 (0.02, 0.29) | 3,011,533 | 229 | 5 | 0.131 (0.04, 0.28) | 8,221,623 | 659 | 2 |
| p.Pro182Leu (TECR) | 93 | 0.058 (0.02, 0.29) | 1,941,199 | 138 | 5 | 0.286 (0.29, 0.29) | 2,455,513 | 196 | 2 |
| c.1085dupT (ZMPSTE24) | 85 | 0.066 (0.02, 0.29) | 692,209 | 63 | 0 | − | − | − | 2 |
| c.35delG (GJB2) | 46 | 0.058 (0.02, 0.30) | 1,995,634b | 162 | 0 | − | − | − | 2 |
| IVS3-1G>C (DNAJC19) | 41 | 0.127 (0.02, 0.29) | 2,073,507 | 122 | 0 | − | − | − | 2 |
| IVS3-2A>G (BBS2) | 42 | 0.081 (0.01, 0.28) | 2,118,302 | 230 | 0 | − | − | − | 2 |
| c.1471delT (PCDH15) | 31 | 0.082 (0.03, 0.29) | 6,681,213 | 829 | 0 | − | − | − | 3 |
| p.Phe508del (CFTR) | 27 | 0.077 (0.02, 0.30) | 4,260,744 | 296 | 0 | − | − | − | 2 |
This table is ordered by carrier frequency. We use common mutation names to retain consistency with the existing literature. The following abbreviations are used: min, minimum; and max, maximum.
The c.3302T>A mutation is present on two Hutterite haplotypes,10 one of which is rare. Our sample included one c.3302T>A homozygote who was heterozygous for the two haplotypes. Because there were no other c.3302T>A carriers on this haplotype background, the consensus data are presented for the common haplotype only.
The GJB2 c.35delG haplotype might be up to ∼0.25 Mb longer than reported here because the proximal end of the haplotype is near the centromere, and no SNPs within that region were genotyped in our sample.