[Application of the polymerase chain reaction technique (PCR) to the molecular diagnosis of myotonic dystrophy].
We report the application of the PCR technique to study the CKMM polymorphisms in 39 Spanish Myotonic Dystrophy affected families. We have studied 255 subjects comprising 116 clinically affected DM patients. The molecular study was informative in 64% of the DM patients. For the 76 at risk individuals, the study was informative in 46 of them, confirming the non carrier status in 34 individuals and demonstrating the at risk haplotype in 12. In the remaining 30 subjects, it was not possible to establish a diagnose with this technique exclusively. The use of the CKMM probe in the DM genetic studies was extremely useful because of the close linkage with the gene (1 cM) and the high heterozygosity (PIC = 0.33). The allelic frequencies detected by the TaqI enzyme (allele I = 0.27; allele i = 0.73) and NcoI enzyme (allele J = 0.29; allele j = 0.71) are similar to the previously reported in other european populations.
Unidad de Genética Molecular, Hospital de la Santa Creu i Sant Pau, Barcelona.
A M
AM
Cobo
J M
JM
Martínez
A
A
López de Munain
M
M
Baiget
D001483:Base Sequence; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
Aplicación de la técnica de la reacción en cadena de la polimerasa (PCR) al diagnóstico molecular de la distrofia miotónica.