title: [Restriction polymorphism of 3 human genomic probes on the short arm of the X chromosome in a reference population, and applications in prenatal and carrier female diagnosis of Duchenne's muscular dystrophy].
abstract: Restriction polymorphisms of three human genomic probes (RC8, L1-28 and p754), located on the short arm of the X chromosome, are studied in a French population panel after digestion with taq I and Pst I endonucleases. Informativeness of these three probes in that population are, respectively, 0.18, 0.41 and 0.50. Two kinds of strategies for utilizing these polymorphisms to prenatal and carrier diagnosis of the Duchenne muscular dystrophy (DMD) are given. The last probe available, p754, is of great interest, cumulating advantages that being nearly the DMD gene (3 centiMorgans) and presenting the maximal informativeness theoretically possible.
mesh_terms: D004247:DNA; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006720:Homozygote; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012016:Reference Values; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D004247:DNA
vernacular_title: Etude du polymorphisme de restriction de trois sondes génomiques humaines du bras court du chromosome X dans une population de référence, et applications au diagnostic prénatal et des vectrices de la dystrophie musculaire de Duchenne.