Gene Expression Abnormalities Quiz

Genetic disorders can result from the expression of a gene at the wrong time or place, or the acquisition of a novel property by a protein.

Examples of gene expression at the wrong place or time include α thalassemias, caused by deletions of α globin genes, and persistence of fetal hemoglobin, which results from mutations in hemoglobin regulatory elements.

Monogenic diseases are caused by mutations in single protein coding genes.

Some examples of proteins associated with monogenic diseases include those involved in transport and storage (e.g. hemoglobin and copper transport proteins), enzyme defects (e.g. phenylalanine hydroxylase and hexosaminidase A), and structural defects (e.g. dystrophin in Duchenne muscular dystrophy).

Thalassemia is a group of inherited blood disorders caused by a reduction in the production of one or more globin chains, resulting in abnormal hemoglobin and anemia.

Thalassemia is characterized by microcytic, hypochromic red blood cells and can be caused by various types of mutations in the β globin gene, leading to decreased β globin production and an imbalance in globin synthesis.

Cystic fibrosis is an autosomal recessive genetic disorder that affects the regulation of a chloride channel in epithelial cells, leading to thick secretions and recurrent infections in the lungs and pancreas, as well as infertility in males.

The CTFR gene, which encodes the Cystic Fibrosis Conductance Regulatory Protein, spans about 250 kb and has 27 exons, encoding a large integral protein of 170 kD. Over 2000 mutations have been detected in the CTFR gene.

The CTFR protein consists of five domains: membrane spanning domain 1 (MSD1), membrane spanning domain 2 (MSD2), nucleotide binding domain 1 (NBD1), nucleotide binding domain 2 (NBD2), and a regulatory domain (R domain).

The pore of the chloride channel is formed by the 12 transmembrane segments and is regulated by phosphorylation of the R domain. ATP is bound and hydrolyzed by the NBDs, providing energy for ion transport.

Genetic disorders can result from the expression of a gene at the wrong time or place, or the acquisition of a novel property by a protein.

Examples of gene expression at the wrong place or time include α thalassemias, caused by deletions of α globin genes, and persistence of fetal hemoglobin, which results from mutations in hemoglobin regulatory elements.

Monogenic diseases are caused by mutations in single protein coding genes.

Some examples of proteins associated with monogenic diseases include those involved in transport and storage (e.g. hemoglobin and copper transport proteins), enzyme defects (e.g. phenylalanine hydroxylase and hexosaminidase A), and structural defects (e.g. dystrophin in Duchenne muscular dystrophy).

Thalassemia is a group of inherited blood disorders caused by a reduction in the production of one or more globin chains, resulting in abnormal hemoglobin and anemia.

Thalassemia is characterized by microcytic, hypochromic red blood cells and can be caused by various types of mutations in the β globin gene, leading to decreased β globin production and an imbalance in globin synthesis.

Cystic fibrosis is an autosomal recessive genetic disorder that affects the regulation of a chloride channel in epithelial cells, leading to thick secretions and recurrent infections in the lungs and pancreas, as well as infertility in males.

The CTFR gene, which encodes the Cystic Fibrosis Conductance Regulatory Protein, spans about 250 kb and has 27 exons, encoding a large integral protein of 170 kD. Over 2000 mutations have been detected in the CTFR gene.

The CTFR protein consists of five domains: membrane spanning domain 1 (MSD1), membrane spanning domain 2 (MSD2), nucleotide binding domain 1 (NBD1), nucleotide binding domain 2 (NBD2), and a regulatory domain (R domain).

The pore of the chloride channel is formed by the 12 transmembrane segments and is regulated by phosphorylation of the R domain. ATP is bound and hydrolyzed by the NBDs, providing energy for ion transport.