Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

Table 3

Genotyping, discrimination ratios, and discrimination powers for healthy individuals and patients with CMT.

Mutation	Sample genotype	(S-B) of wild-type allele probe	(SB) of mutant allele probe	Discrimination ratio	DNA type	Power of discrimination between genotypes
V95M	Homozygous Wild-type	33.4	1.9	WT Probe: 17.58	Normal control	19
	Heterozygous	8.6	8	MT Probe: 0.93	Patient
V113F	Homozygous Wild-type	233.65	3.17	WT Probe: 73.7	Normal control	23
	Heterozygous	111.8	362.7	MT Probe: 3.2	Patient
T124M	Homozygous Wild-type	181.09	3.58	WT Probe: 50,58	Normal control	211
	Heterozygous	138.3	33.9	MT Probe: 0.24	Patient
C42R	Homozygous Wild-type	141.18	2.15	WT Probe: 65.66	Normal control	30
	Heterozygous	55.6	126	MT Probe: 2.2	Patient

Signal-Background (S-B) calculations for each spot bearing the wild-type or mutant allele were obtained after the hybridization of PCR products from heterozygous patients and unaffected individuals. The discrimination ratio between mutant and normal allele probes should be as high as possible for healthy individuals (homozygous wild-type genotypes) and as close as possible to 1 for heterozygous affected patients. The discrimination power should be as high as possible.