KpnI and RsaI RFLPs for the human fumarylacetoacetate hydrolase (FAH) gene

MspI RFLP in the human fumarylacetoacetate hydrolase (FAH) gene.

PstI and RsaI RFLPs in complete linkage disequilibrium at the CYP2E gene.

Source/Description: A 1.5 kb Apal-Apal fragment, containing 5' upstream sequences of the human CYP2E gene (1). Polymorphism: Pstl detects a two allele polymorphism with bands at 6.1 kb (Cl) or 3.9 and 2.2 kb (C2). Rsal detects a two allele polymorphism with bands at 1.4 and 0.5 kb (Cl) or 1.9 kb (C2). These two polymorphisms are in complete linkage disequilibrium with each other. Other Comments...

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.

Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that disrupt tyrosine catabolism. An acute form of HT1 results in death during the first months of life because of hepatic failure, whereas a chronic form leads to gradual development of liver disease often accompanied by ren...

design and evaluation PCR primer for type 1 tyrosinemia patient from yasuj

Tyrosinemia is a rare autosomal recessive genetic disease caused by fumarylacetoacetate hydrolase deficiency. 40 different mutation have been recognized related to Tyrosinemia that could be found in all extend of the gene with higher frequency from exon 8 to 14. Because of the size of FAH gene it's impossible to Sequence whole length of the gene by one round of sequencing reaction. Aim of this ...

Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors.

Tyrosinemia type 1, caused by mutations in the fumarylacetoacetate hydrolase gene (Fah), is characterized by severe liver injury. We earlier developed a tyrosinemic mouse model with two genetic defects, Fah and 4-hydroxyphenylpyruvate dioxygenase (Hpd) deficiencies. Apoptosis of hepatocytes was induced and an acute onset of liver failure occurred after administration of homogentisic acid (HGA),...