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A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome
- Source :
- American journal of medical genetics. 28(2)
- Publication Year :
- 1987
-
Abstract
- The Chediak-Higashi syndrome (CHS) is an autosomal recessive genetic disease of humans, and clinically similar diseases occur in cats, mink, cattle, mice, killer whales, blue foxes, and silver foxes. It is characterized by incomplete albinism, increased susceptibility to infection, and the most distinctive hallmark, the presence of enlarged cytoplasmic granules in many cell types. The acid phosphatase-positive granules, lysosomes, of fibroblasts from control and CHS humans, cats, mink, cattle, and mice were examined. These studies represent the initial characterization of the lesions in fibroblasts of CHS cats, mink, and cattle. Fibroblasts from each species and genotype were stained histochemically for acid phosphatase, and morphometric analysis of the distribution of acid phosphatase-positive granules was performed. The lysosomes in the CHS fibroblasts tended to be restricted to the perinuclear area of the cytoplasm, whereas the lysosomes in the normal fibroblasts were generally more widely distributed in the cytoplasm. The lysosomes in the CHS fibroblasts of all species examined were also more enlarged and heterogeneous than those in the control fibroblasts.
- Subjects :
- Cell type
Genotype
Acid Phosphatase
Biology
Mice
hemic and lymphatic diseases
biology.animal
medicine
Animals
Humans
Mink
Genetics (clinical)
Cells, Cultured
CATS
integumentary system
Histocytochemistry
Chédiak–Higashi syndrome
Acid phosphatase
Fibroblasts
medicine.disease
Molecular biology
Disease Models, Animal
Cytoplasm
Immunology
Albinism
biology.protein
Cats
Cattle
Chediak-Higashi Syndrome
Lysosomes
Subjects
Details
- ISSN :
- 01487299
- Volume :
- 28
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics
- Accession number :
- edsair.doi.dedup.....3a34e08a6e6a1b6204eeab7113d88518