Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid protein (PLP), the major protein component of myelin. A tight linkage between the gene of PLP and PMD locus has been suggested. We have carried out a series of RFLP studies using a cDNA probe for PLP and an anonymous DNA-fragment DXYS12 in a large Finnish family with at least three affected individuals. DNA analysis on chorionic villus specimens allowed us to exclude the disease in a male fetus of a possible carrier mother and, likewise, to demonstrate carrier status in a female fetus in another at-risk pregnancy.
Mäenpää
J
J
Department of Medical Genetics, University of Turku, Finland.
Lindahl
E
E
Aula
P
P
Savontaus
M L
ML
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D015193:Chorionic Villi Sampling; D015342:DNA Probes; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012307:Risk Factors; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014960:X Chromosome
D015342:DNA Probes