Cystic fibrosis - prenatal diagnosis

Cystic Fibrosis
Identification of disease: Cystic fibrosis is an autosomal recessive genetic disorder that is caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene on chromosome 7 which codes for the protein that controls ion transfer across cell membranes. This disease is more common in Caucasian people - About 5 percent of white people carry one defective gene responsible for cystic fibrosis, but the trait is recessive, and the disease develops only if a person has two defective genes. People with only one defective gene have no noticeable symptoms. Since this is not a sex- linked disorder, the carriers of this disease are both female & male, provided that they are heterozygous
Symptoms: Cystic fibrosis (CF) is caused by changes in a protein that controls the transfer of chloride and sodium ions (salts) across cell membranes. Disruption of salt transfer results in abnormal gland secretions and dehydration due to increased loss of salt and water during sweat...