| 1. |
- Abrahamson, Magnus, et al.
(författare)
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Hereditary cystatin C amyloid angiopathy: Identification of the disease causing mutation and specific diagnosis by polymerase chain reaction based analysis
- 1992
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Ingår i: Human Genetics. - 1432-1203. ; 89:4, s. 377-380
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Tidskriftsartikel (refereegranskat)abstract
- Hereditary cystatin C amyloid angiopathy (HCCAA) is a dominantly inherited disease characterized by amyloidosis, dementia and fatal cerebral hemorrhage of young adults. A method for rapid and simple diagnosis of HCCAA is described. It is based upon oligonucleotide-directed enzymatic amplification of a 275-bp genomic DNA segment containing exon 2 of the cystatin C gene from a blood sample, followed by digestion of the amplification product with AluI. Loss of an AluI recognition site in the amplified DNA segment from HCCAA patients results in a deviating band-pattern at agarose gel electrophoresis, compared with that obtained from normal subjects or unaffected HCCAA family members. In a population of 9 patients with manifest HCCAA, 14 patients with other causes of brain hemorrhage and 16 healthy individuals, the diagnostic procedure displayed a sensitivity and specificity for HCCAA of 100%. Amplified DNA segments from 4 HCCAA patients of four different families were analyzed by nucleotide sequencing; the HCCAA-causing mutation in all families was found to be a single TrarrA substitution in the codon for amino acid residue 68 of cystatin C.
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| 2. |
- Balbin, Milagros, et al.
(författare)
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A novel mutation in the β-protein coding region of the amyloid β-protein precursor (APP) gene
- 1992
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Ingår i: Human Genetics. - 1432-1203. ; 89:5, s. 580-582
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Tidskriftsartikel (refereegranskat)abstract
- A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow population studies of this DNA variation. The mutation, which is silent at the protein level, was present in 2 out of 12 investigated AD patients, in 1 out of 60 non-AD patients and in 1 out of 30 healthy individuals. The mutation can be used as a new marker for linkage studies involving the APP gene, although more comprehensive population studies are required to determine the status of the mutation as a possible risk factor for the development of AD.
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| 3. |
- Balbin, Milagos, et al.
(författare)
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PCR assay for a polymorphic Dde I site in the promoter region of the human cystatin C gene (CST3)
- 1992
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Ingår i: Human Genetics. - 1432-1203. ; 88:6, s. 710-710
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Tidskriftsartikel (refereegranskat)abstract
- A new DNA variant in the promoter region of the human cystatin C gene has been detected by direct sequencing. The base substitution generates a newDdeO restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
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