The South Asian genome.

The genetic sequence variation of people from the Indian subcontinent who comprise one-quarter of the world's population, is not well described. We carried out whole genome sequencing of 168 South Asians, along with whole-exome sequencing of 147 South Asians to provide deeper characterisation of coding regions. We identify 12,962,155 autosomal sequence variants, including 2,946,861 new SNPs and 312,738 novel indels.

A novel albumin gene mutation (R222I) in familial dysalbuminemic hyperthyroxinemia.

Context: Familial dysalbuminemic hyperthyroxinemia, characterized by abnormal circulating albumin with increased T4 affinity, causes artefactual elevation of free T4 concentrations in euthyroid individuals.

Objective: Four unrelated index cases with discordant thyroid function tests in different assay platforms were investigated.

Design And Results: Laboratory biochemical assessment, radiolabeled T4 binding studies, and ALB sequencing were undertaken.

Presence of hepcidin-25 in biological fluids: bile, ascitic and pleural fluids.

Aim: To examine body fluids such as ascitic fluid (AF), saliva, bile and pleural effusions for the presence of hepcidin using a novel radioimmunoassay (RIA).

Methods: Serum samples were collected from 25 healthy volunteers (mean age: 36 +/- 11.9 years, 11 males, 14 females).

Hepcidin and inflammatory bowel disease: dual role in host defence and iron homoeostasis.

Objective: Hepcidin is an endogenous antimicrobial peptide with a key role in iron homoeostasis. Hepcidin is similar to defensin, the deficiency of which is associated with Crohn's disease. To date there has been no validated method to reliably assay serum hepcidin.

Prohepcidin levels in refractory anaemia caused by lead poisoning.

Recent research evidence suggests a central role for hepcidin in iron homeostasis. Hepcidin is a hormone synthesized in the liver. Hepcidin is also thought to play a vital role in the pathogenic mechanism of anaemia in patients with inflammation or chronic disease.