Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect / 中南大学学报(医学版)

ABSTRACT

OBJECTIVE@#To localize the gene of autosomal dominant familial dilated cardiomyopathy with conduction defect.@*METHODS@#A Chinese family which was diagnosed as dilated cardiomyopathy with conduction defect was studied. Venous blood (3 - 5 mL) from some family members was collected, and genomic DNA was extracted from the blood. Then whole genome wide scan was performed after excluding the known markers on the candidate loci (CMD1A, CMD1 E, CMD1F, and CMD1H) by two-point linkage analysis.@*RESULTS@#No significant evidence for linkage was found in the two point linkage analyses to the known markers in the analyzed family. And the whole genome wide scan showed the maximum LOD score reached 2.68 at marker D3S1614 ( at recombination fraction theta = 0).@*CONCLUSION@#The related gene in this kindred is located on 3q26 other than on CMD1A, CMD1H, CMD1E, and CMD1F.