Confirmed Newly Identified Probable Neutral Sequence Variations Detected by DNA Chip Analysis
| Sample | Status | Familial Relationships | Genomic DNA sequence change | Protein change | State | Loss of signal[i] | Gain of signal[ii] | ||||||||
| coding | nc[iii] | coding | nc[iii] | ||||||||||||
| GMO9585 | carrier | father of GMO9587B | 735 C→T | V245V | het | ++ | ++ | + | + | ||||||
| GMO3188A | carrier | mother of GMO3189C | 4578 C→T | P1526P | hom | ++ | ++ | + | + | ||||||
| GMO2781B | carrier | mother of GMO2782B | 5558 A→T | D1853V | het | + | ++ | + | + | ||||||
| GMO9587B[iv] | affected | offspring of GMO9585 and GMO9588A | 735 C→T | V245V | het | ++ | ++ | − | + | ||||||
| GMO3189C[iv] | affected | offspring of GMO3187A and GMO3188A | 4578 C→T | P1526P | het | +/− | ++ | − | − | ||||||
| (AT3LA) GM11261[iv] | affected | proband | 1254 A→G | Q418Q | het | ++ | ++ | + | + | ||||||
| NA11254[iv] | affected | proband | 4578 C→T | P1526P | het | ++ | ++ | − | − | ||||||
[i] (++) Peak height ⩾ 1.3; (+/−) peak height ⩾ 1.2 and < 1.3; (−) peak height < 1.2.
[ii] (+) Allele-specific probe signal ⩾ 1.2× wild-type probe; (−) allele-specific probe signal < 1.2× wild-type probe.
[iii] (nc) Noncoding strand.
[iv] Wright et al. (1996).