RÉSUMÉ
Three highly informative markers genetically linked to Huntington's Disease (HD) were used for diagnosis of HD in Mexican patients, two polymorphic HindIII sites located at D4S10 locus and one VNTR marker at D4S111 locus (VNTR-111). Forty chromosomes from healthy sybjects were tested in order to evaluate the informativeness of the probes. The RFLP HindIII 1 and 2 and the VNTR-111 probes showed a heterozygosity of 0 percent, 45 percent, and 60 percent, respectively. Five families were analyzed, of these, only in two the markers used were informative. In one of them, six membrers showed a decreased risk of inheritance of the mutant gene for Huntington's Didease with 95 percent accuracy
Sujet(s)
Humains , ADN , Maladies génétiques congénitales/thérapie , Génétique médicale/méthodes , Génétique des populations , Maladie de Huntington/diagnostic , Marqueurs génétiques/physiologie , Mexique , Biologie moléculaire , Réaction de polymérisation en chaîne , Facteurs de risqueRÉSUMÉ
The frequency of allels, intragenic (intron 18) and extrangenic (DXS52) Bcl I RFLPs was investigated in a sample of the Mexican population. Altogether 33 X chromosomes at R8c locus and 30 at DXS52 locus were studied. The allele frequencies found at the F8c locus were similar to those reported in the majority of other populations. The observed heterozygosity for the intragenic extragenic markers were 0.57 and 0.64, respectively. By using these two RFLps 15 famales at risk in five independent families with hemophilia A were investigated; ten for them could be identified and five excluded as carries