[A study of the chromosomal location of a gene responsible for hypertrophic cardiomyopathy].

Hypertrophic cardiomyopathy (HCM) is defined as a disorder with nondilated left ventricular hypertrophy in the absence of any overt cause, and diagnosed by clinical symptoms (chest pain, syncope, et al.), past history, electrocardiography and two-dimensional echocardiography. About 50% of HCM (familial HCM) has a familial occurrence with an autosomal mode of inheritance. To investigate the causative genes of familial HCM, we have performed a linkage analysis by using RFLP (Restriction Fragment Length Polymorphism) method. In this method, DNA markers which are mapped to one region of the human genome with the known location were used to identify DNA markers linked to the causative loci for familial HCM. The linkage analysis was performed by calculating a lod score, using LIPED program. Thirteen families with familial HCM, composed of HCM patients, were studied by RFLP method. The maximum lod score of PALB, which is located on chromosome 18q11.2-12.1 was 3.672, although those of the other DNA markers were below-2 at a recombination fraction of 0.00 with complete penetrance. These results strongly suggest that the causative gene for familial HCM is closely linked with PALB and expected to facilitate the identification and cloning of the causative genes of familial HCM.