Genetic testing cystic fibrosis

Genetic Testing of Cystic Fibrosis Patients Using PCR... 

A 1-year-old toddler with cystic fibrosis (CF) is seen by his physician for an upper respiratory infection with Pseudomonas aeruginosa. He is started on oral norfloxacin and referred to a CF center as i potential candidate for gene therapy. Prior genetic testing of the patient identified the mutation causing cystic fibrosis as a 3-base-pair deletion in esan 10 of the CF gene. The nucleotide sequences f codons 506-511 in this region of the normal and mutant alleles are compared below. 

Caucasian. In the United States, most testing clients are, like the majority of the population, Caucasian non-Jews. This is important for the testing laboratory to know because the Bayesian for carrying a common disease allele, such as that causing cystic fibrosis, differs from that of Ashkenazi Jews, Asians, or African Americans. In addition, Caucasian non-Jews of Northern European descent are more prone to different genetic diseases, such as hemochromatosis, than are individuals of other ethnicities. 

Genetic testing for cystic fibrosis using PCR. CFTR = cystic fibrosis transmembrane regulator. 

American and British scientists unveiled a technique for testing embiyos in vitro for genetic abnormalities such as cystic fibrosis and hemophilia. 

NIH Consensus Development Conference Statement. Genetic testing for cystic fibrosis. Arch Intern Med 159 1529-1539. 

Buyse IM, McCarthy SE, Lurix P, Pace RP, Vo D, Bartlett GA, Schmitt ES, Ward PA, Oermann C, Eng CM, Roa BR. Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis evidence that 3199del6 is a disease-causing mutation. Genet Med 6 426-430. 

Gilbert R Cystic fibrosis carrier screening steps in the development of a mutation panel. Genet Testing 2001 5 223-7. 

Henneman L, Bramsen I, Van Der Ploeg HM, Ten Kate LP. Preconception cystic fibrosis carrier couple screening impact, understanding, and satisfaction. Genet Testing 2002 3 195-202. 

Rohlfs EM, Shaheen NJ, Silverman LM. Is the hemochromatosis gene a modifier locus for cystic fibrosis Genet Test 1998 2 85. 

Prenatal diagnosis of genetic disease is normally carried out on a sample of amniotic fluid obtained by amniocentesis or by chorionic villus sampling (CVS). Conventional diagnostic tests for diseases such as cystic fibrosis can take as long as 2 weeks. Results of a PCR test can be available in 1 day. If the option to terminate a pregnancy is taken, this time savings can... 

Health (NIH) Counseling Development Conference. Clinical practice includes several hundred genetic tests that are able to detect mutations such as those associated with breast and colon cancers, muscular dystrophy, cystic fibrosis, sickle-cell disease, and Huntington s disease. 

Screening Tests. Another common tool of reproductive genetics is the use of screening tests to identify genetic traits in embryos produced by in vitro fertilization before they are implanted in a woman s uterus. After a cell sample has been retrieved from the blastocyst or embryo, various techniques can be used to screen its DNA for possible genetic abnormalities associated with diseases such as Down syndrome or cystic fibrosis. For example, short pieces of DNA can be artihcially produced that are specially designed to bind to and mark mutated DNA in the sample, if it exists. Alternatively, the DNA in the sample can be directly examined to look for known mutations. Tests can also be carried out that reveal enzymes and proteins produced by specific genes. 

---