Miakotkin V A, Finogenova S A, Krylov M Iu, Moshnina M A, Korovina E P, Moiseev V S
Ter Arkh. 1999;71(5):67-70.
To estimate probability of location of the gene determining family hypertrophic cardiomyopathy (HCMP) in family P. on the 14th chromosome in segment 14q11 using parametric method "lod score".
The family of proband P. had multiple cases of HCMP. Dinucleotide GT repeat and NT 256 point variation located in the cluster of genes coding synthesis of TCRD (14q11 chromosome segment) were used as markers of HCMP gene (FHC-1 gene 14q1 chromosome segment). Allele polymorphism of the two markers was defined at polymerase chain reaction, restriction of the amplificate by restrictase BamHI (for NT 256 point variation) and vertical electrophoresis in polyacrylamide and agar gels.
Basing on the distribution of the above markers in P. family, lod score estimates in all the standard values of recombination frequency were determined (0-0,45, step 0.05). The maximal estimate corresponded to zero recombination frequency and was equal to 1.17 (this was below the critical value 3). However, the obtained lod score value satisfied the chance ratio 15:1 in favor of the link presence.
The data obtained evidence for the presence of the link of HCMP gene with marker locus TCRD which is nearby the identified locus of the disease (FHC-1-14q11.2 segment). This suggests that HCMP in family P may be due to mutant allele of the gene coding synthesis of beta-polypeptide chains of cardial myosin.
