Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis |
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Authors: | Johanna Mä enpä ä ,Elina Lindahl,Pertti Aula,Marja-Liisa Savontaus |
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Affiliation: | Department of Medical Genetics, Institute of Biomedicine, University of Turku;Turku University Central Hospital, Turku, Finland |
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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. |
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Keywords: | leucodystrophy Pelizaeus-Merzbacher disease prenatal diagnosis proteolipid protein (PLP) |
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