Table I.
Variants identified in three genes by PCR sequencing among 47 cases derived from 15 families contributing most to the chromosome 7 linkage signal.
| Variants | Position | SNP ID | Est. Freq.a | 1000G Freq. (P)b (n = 150) | HM Freq. (P)c (n = 60) |
|---|---|---|---|---|---|
| INHBA | |||||
| g.−199A>G | 5′UTR | rs73100934 | 0.03 | 0.09 (0.86) | N/A |
| SFRP4 | |||||
| g.−565G>T | 5′US | rs62443106 | 0.03 | 0.03 (1.00) | N/A |
| g.−415G>A | 5′US | Novel | 0.02 | N/A | N/A |
| g.−256C>T | 5′US | rs71546610 | 0.20 | 0.32 (0.85) | N/A |
| g.−163G>A | 5′UTR | Novel | 0.02 | N/A | N/A |
| g.567G>A | Exon 3 | rs1132552 | 0.38 | 0.38 (1.00) | 0.42 (0.95) |
| g.786C>T | Exon 4 | rs1132553 | 0.60 | 0.63 (0.97) | 0.58 (0.98) |
| g.958C>A | Exon 6 | rs1802073 | 0.33 | 0.33 (1.00) | 0.33 (1.00) |
| g.1019G>A | Exon 6 | rs1802074 | 0.14 | 0.22 (0.88) | 0.24 (0.86) |
| HOXA10 | |||||
| g.−351C>T | 5′UTR | Novel | 0.02 | N/A | N/A |
| g.1157G>A | Exon 2 | rs34957925 | 0.02 | 0.04 (0.93) | 0.05 (0.91) |
5′US, 5′ upstream; N/A, not available.
aEstimated frequencies of the mutated alleles in the 15 linkage pedigrees.
bPopulation-based frequency in CEU population from 1000 Genomes Project (release in July 2010) and P-value of allele frequency difference between cases and 1000G individuals.
cPopulation-based frequency in CEU population from HapMap Project release 28, and P-value of allele frequency difference between cases and HapMap individuals.