Detection of known mutations in hypertrophic cardiomyopathy using oligonucleotide microarrays assisted by improved base stacking hybridization.
With the assistance of improved base stacking hybridization, a low-density microarray, containing 12 capture probes, was used to identify 7 known hypertrophic cardiomyopathy-related mutations in the gene of MYH7 (beta-myosia heavy chain). The hybridization targets, amplified from 11 plasmids containing wild type or mutation sequences of MYH7 and healthy genomic DNA, were prepared by single-step fluorescence labeled asymmetric PCR. Six single base substitutions and a trinucleotide deletion were identified unambiguously, and the average discrimination ratio (Qmut) for artificial heterozygous samples was as high as 16.2.
Wang
Dong
D
Department of Biological Sciences and Biotechnology, Tsinghua University, Beijing 100084, PR China.
Li
Yan
Y
Zhang
Rui
R
Jiang
Di
D
Ma
Xuemei
X
Zhou
Yuxiang
Y
Cheng
Jing
J
D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005240:Feasibility Studies; D020869:Gene Expression Profiling / Q000379:methods; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D016415:Sequence Alignment / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods*; D017384:Sequence Deletion / Q000235:genetics
D005819:Genetic Markers; D018995:Myosin Heavy Chains