Strategies for Mutational Analysis of the Large Multiexon ATM Gene Using High-Density Oligonucleotide Arrays

Table 4.

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 Gain of signal
coding nc coding nc
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 affected offspring of  GMO9585  and  GMO9588A 735 C→T V245V het ++ ++ − +
GMO3189C affected offspring of  GMO3187A  and  GMO3188A 4578 C→T P1526P het +/− ++ − −
(AT3LA)  GM11261 affected proband 1254 A→G Q418Q het ++ ++ + +
NA11254 affected proband 4578 C→T P1526P het ++ ++ − −

  • ↵(++) Peak height ⩾ 1.3; (+/−) peak height ⩾ 1.2 and < 1.3; (−) peak height < 1.2.

  • ↵(+) Allele-specific probe signal ⩾ 1.2× wild-type probe; (−) allele-specific probe signal < 1.2× wild-type probe.

  • ↵(nc) Noncoding strand.

  • ↵ Wright et al. (1996).

This Article

  1. Genome Res. 8: 1245-1258

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