Hereditary hyperbilirubinemia and its molecular diagnosis

Gene assembling: a new approach in molecular diagnosis of hereditary breast cancer

 Abstract Background: Many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. Scanning each exon individually represents a tedious task which can be time consuming and expensive. There has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. Gene Assembling i...

Pediatric Conjugated Hyperbilirubinemia — Diagnosis and Treatment

5. Biochemistry, molecular biology and molecular genetics of hyperbilirubinemia

Hyperbilirubinemia is the most common problem encountered in terms newborns which is mainly caused by abnormal liver function, hemolysis or genetic defect. Uncongugated bilirubin is produced mainly by the turnover of erythrocytes, after that it is transported by organic anion transporter polypeptide (OATP) to the liver, where uncongugated bilirubin is conjugated by uridine diphosphoglucuronate ...

Molecular Diagnosis of Hereditary Nonpolyposis Colorectal Cancer (hnpcc)

iii Imagine a single cell in your body, turning against you, becoming malignant, and eventually causing a life-threatening disease. Cancer is both fascinating and horrifying. For decades, scientists have battled to unravel the underlying mechanisms. Although significant progress has been made, the heart of the mystery remains unsolved.

Doublex sequencing in molecular diagnosis of hereditary diseases.

We describe doublex sequencing of human genomic PCR products using two differently labeled primers in a single reaction and analysis on two automated DNA sequencing devices. Feasibility of the methodology is demonstrated by isothermal and cycle sequencing for two different PCR products and by cycle sequencing on both strands of a single product. It was applied to analyze mutations in patient DN...