Genome analyses genetic variability

Kralovicova J, Hammarstrom L, Plebani A, Webster ADB, Vorechovsky I (2003) Fine-scale mapping at IGAD1 and genome-wide genetic lingage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J Immunol, 170 2765-2775. 

Buetow and coworkers were the first to apply allele-frequency estimations by MALDI-TOF-MS in DNA pools on a genome-wide basis [216]. Recently, several other groups have dissected the major process variables from amplification to MALDI-TOF-MS analysis and have provided proof-of-principle that the approach allows for the identification of major genetic contributors to complex diseases [212-215, 222]. Recently, Ding et al. took these applications one step further when they combined the sensitivity and specificity of the combination of PCR and analysis by MALDI-TOF-MS (which they had demonstrated with the molecular haplo-typing approach) with the quantitative features established in the experiments described above. In this way, it was possible to demonstrate an analysis of mutations in circulating NAs which, ultimately, proved to be an important milestone towards noninvasive prenatal diagnostics [223]. 

---