[Indirect molecular-genetic family study and prenatal diagnosis of infantile spinal muscular atrophy].
Spinal muscular atrophy is one of the most common severe inherited diseases in childhood and especially the acute form of type I (Werdnig-Hoffmann) results in early death. Recently, all three types of childhood-onset SMA have been mapped to chromosome 5. Since then heterozygote detection in siblings and prenatal diagnosis of SMA type I is possible by indirect genetic analysis. As the gene and the mutation responsible for the disease have not yet been cloned, DNA analysis results in a risk figure which depends on the informativity and recombination frequency of the flanking markers studied.
Heber
U
U
Abteilung für Molekulargenetik, Universität Würzburg.
Müller
C R
CR
D015193:Chorionic Villi Sampling; D002895:Chromosomes, Human, Pair 5; D004276:DNA, Satellite / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality
D004276:DNA, Satellite; D005819:Genetic Markers
Indirekte molekulargenetische Familienuntersuchung und Pränataldiagnostik bei kindlichen Spinalen Muskelatrophien (SMA).