PubMed · 1977147
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
D DiSilvestre, C Morris, N Heisterkamp, J Groffen. 1990-10-11. A hypervariable RFLP within the ABR gene.. https://doi.org/10.1093/nar%2F18.19.5924
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Explore the source record for details and available documents.
The hamartoses are a large group of disorders with autosomal dominant inheritance or sporadic occurrence. The genes responsible for some have been localized to specific chromosomes and in several instances, genetic heterogeneity has been established. Thus neurofibromatosis and tuberous sclerosis are no longer single entities. For example, the gene for Type I neurofibromatosis is on chromosome 17 and the gene for Type II is on chromosome 22. In this paper, genetic aspects of the hamartoses are updated and asymmetry is discussed in Sturge-Weber angiomatosis, epidermal nevus syndrome, Gardner syndrome, neurofibromatosis, and Proteus syndrome.
Nephropathic cystinosis (MIM 21980) is an autosomal recessive disorder due to defective transport of the amino acid cystine out of lysosomes. Cystine storage leads to acidosis, dehydration, rickets and growth retardation in the first year of life, followed by renal glomerular failure at approximately ten years of age. Renal transplantation is highly successful, but cystine continues to accumulate in other tissues, resulting in complications such as corneal ulcerations and retinal blindness, a distal vacuolar myopathy, delayed puberty, swallowing difficulties, pancreatic deficiency and central nervous system involvement. Treatment with the cysteine-depleting agent, cysteamine (Cystagon), or phosphocysteamine, has proven successful in retarding glomerular deterioration and enhancing growth. Although cystinosis represents the prototypic disorder of lysosomal membrane transport, neither the cystinosis gene nor the lysosomal cystine carrier has been isolated. We now report linkage of the cystinosis gene to markers on the short arm of chromosome 17 (Zmax = 10.89, theta = 0.03) for marker D17S1584. Multipoint analysis and haplotypes in recombinant families suggest that the gene is located between markers D17S1583 and D17S796.