Prenatal diagnosis in Pelizaeus‐Merzbacher disease using RFLP analysis

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Abstract
Pelizaeus‐Merzbacher disease (PMD) is a rare X‐linked recessive disorder with severe psycho‐motor 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.