Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.

A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M in a single duplex reaction. We validated our assay by comparison with phenotype studies obtained by the standard isoelectrofocusing technique.

The use of nested RT-PCR of prostate-specific membrane antigen in blood cells: implications for the detection of haematogenous neoplastic cells in patients with prostate adenocarcinoma.

The aim of this study was to determine the presence of haematogenous neoplastic cells in patients with prostate cancer. Circulating prostate cells can be detected in cancer patients by using a nested-reverse transcriptase-polymerase chain reaction assay (RT-PCR), for prostate-specific membrane (PSM) antigen mRNA. This sensitive nested RT-PCR assay may play a crucial role in the administration of adjuvant therapy of patients with prostate adenocarcinoma.

Pattern of gradient of apolipoprotein E allele *4 frequencies in western Europe.

The apolipoprotein E gene (APOE) is located on chromosome 19. The three most common APOE alleles account for most of the corresponding peptide chain variations in most human populations. APOE*3 is the most common allele, coding for the product E3; APOE*2 codes for an Arg-158-->Cys substitution (E2), and APOE*4 codes for a Cys-112-->Arg product (E4).

Trinucleotide GAA repeat expansions in seven French Friedreich ataxia families.

We collected 7 Friedreich ataxia (FRDA) pedigrees from France. All cases but one family were homozygous for an unstable GAA trinucleotide expansion in the first intron of the frataxin gene. In this peculiar pedigree absence of the GAA expansion supports the notion of possible genetic heterogeneity of FRDA.

Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.

The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.

Allele doses of apolipoprotein E type epsilon 4 in sporadic late-onset Alzheimer's disease.

Apoliprotein E, type epsilon 4 allele (ApoE-epsilon 4) is associated with late-onset sporadic Alzheimer's disease (AD). We have found that the cumulative probability of remaining unaffected over time decreases for each dose of ApoE-epsilon 4 in sporadic, late-onset French AD. The effect of genotypes on age at onset of AD was analyzed using the product limit method, to compare unaffected groups during aging.

Association of apolipoprotein E allele epsilon 4 with late-onset sporadic Alzheimer's disease.

Apolipoprotein E, type epsilon 4 allele (ApoE epsilon 4), is associated with late-onset sporadic Alzheimer's disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.