Resumen
Niemann-Pick type II disease is a severe disorder characterized by accumulation of tissue cholesterol and sphingomyelin and by progressive degeneration of the nervous system. This disease has two clinically similar subtypes, type C (NPC) and type D (NPD). NPC is clinically variable and has been identified in many ethnic groups. NPD, on the other hand, has been reported only in descendants of an Acadian couple who lived in Nova Scotia in the early 18th century and has a more homogeneous expression resembling that of less severely affected NPC patients. Despite biochemical differences, it has not been established whether NPC and NPD are allelic variants of the same disease. We report here that NPD is tightly linked (recombination fraction .00; maximum LOD score 4.50) to a microsatellite marker, D18S480, from the centromeric region of chromosome 18q. Carstea et al. have reported that the NPC gene maps to this same site; therefore we suggest that NPC and NPD likely result from mutations in the same gene.
| Idioma original | English |
|---|---|
| Páginas (desde-hasta) | 139-142 |
| Número de páginas | 4 |
| Publicación | American Journal of Human Genetics |
| Volumen | 61 |
| N.º | 1 |
| DOI | |
| Estado | Published - jul. 1997 |
Nota bibliográfica
Funding Information:We thank the NPD family members who contributed blood samples, the Yarmouth County Hospital laboratory staff for shipping the blood to our laboratory, Carolyn Diamond and Sathyasai K. Murty for contacting families and updating pedigrees, and Karen Cleveland for excellent secretarial assistance. This work has been supported by the Ara Parseghian Medical Research Foundation, by The National Niemann-Pick Foundation, by The IWK Grace Maternity Health Centre for Children, Women and Families of Halifax, Nova Scotia, and by the Medical Research Council of Canada.
ASJC Scopus Subject Areas
- Genetics
- Genetics(clinical)
ODS de las Naciones Unidas
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