An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

Most adults affected with HFE hereditary hemochromatosis (HH type 1, MIMmusical sharp 235200) are homozygous for the p.Cys282Tyr mutation in HFE (NC_000006.10, region 26195427 to 26205038).

[Apolipoprotein E and bleomycin hydrolase. Polymorphisms: association with neurodegenerative diseases].

Several studies indicate a possible association between different genes and chronic neurodegenerative diseases including Alzheimer's disease (DTA). To further investigate, we have analyzed association between the apolipoprotein E (apo E) and bleomycin hydrolase (BH) polymorphisms and three groups of elderly patients: control subjects (T) (n = 68), late-onset sporadic DTA patients (DTAst) (n = 65) and other non vascular neurodegerative diseases (MNDA) (n = 52). Apo E-epsilon4 and BH-G alleles frequencies (%) are: 8.

[Molecular genetics: pre- and post-analytic "best practices"].

Medical prescriptions for molecular genetic analyses are not yet very common in general practice, neverless they are becoming more and more frequent, and therefore it is more difficult to deal with them in part because of the recent french rules. Laboratory managers are supposed to be able to deal with such requests. This document, describing good laboratory practices, has been elaborated by members of the group "molecular genetics" from the "College National de Biochimie des Hôpitaux", providing details about: assessment of the prescriptions, including patient's consent, choice of the executing laboratory, specimen transmission, assessment and control of clinical and biological data, results transmission, confidentiality, archiving system.

Changes in human high density lipoproteins in patients with extra-hepatic biliary obstruction.

Plasma high density lipoproteins (HDL) from patients with obstruction of the common bile duct were studied by crossed immunoelectrophoresis and isoelectric focusing. All cholestatic HDL fractions were rich in phospholipids (51.5 +/- 9%) with high proportions of free cholesterol (13.