3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.
Linkage analysis and haplotype characterization for the allelic system detected at the 3' creatine kinase muscle type (CKMM) locus were carried out in 59 myotonic dystrophy (DM) families from Italy and Spain. A maximum lod score (zmax) of 21.26 at a recombination frequency (theta) of 0.00 was found. No statistically significant linkage disequilibrium was observed between DM and the RFLPs examined. However, a substantial linkage disequilibrium was found between CKMM-TaqI and CKMM-NcoI sites in these two populations.
Department of Public Health and Cell Biology, IInd University of Rome, Italy.
M
M
Gennarelli
G
G
Novelli
A
A
Cobo
M
M
Baiget
B
B
Dallapiccola
D000483:Alleles; D001483:Base Sequence; D003402:Creatine Kinase / Q000235:genetics*; D004247:DNA; D005787:Gene Frequency; D008040:Genetic Linkage; D006239:Haplotypes; D007558:Italy; D008126:Lod Score; D008969:Molecular Sequence Data; D009223:Myotonic Dystrophy / Q000201:enzymology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D013030:Spain
D004247:DNA; D003402:Creatine Kinase