Genetic diagnosis

Mackenzie, A.E., Allen, G., Lahey, D., Crossen, M.L., Nolan, K., Mettler, G., Worton, R.G., MacLen-nan, D.H., Korneluk, R. (1991). A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia. Anesthesiology 75,4-8. 

Littlefield, J. W. Mllunsky, A. and Atkins, L. "An Overview of Prenatal Genetic Diagnosis", in Birth Defects, Proc. 4th Int. Conf., ed, A. G. Mbtulsky and W. Lenz, Excerpta Medlca, Amsterdam, 1974, 234-239. 

Xu, K., et al., "First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia," JAMA, 281, 1701-1705 (1999). 

Shimizu, W. (2005) The long QT syndrome therapeutic implications of a genetic diagnosis. Cardiovascular Research, 67, 347-356. 

Sequencing DNA (Human Genome Project, Genetic diagnosis)... 

Identify potential RFLP markers for genetic diagnosis. 

Genetic diagnosis usually direct and requires pedigree. 

A 25-year-old woman has mild expression of hemophilia A. A genetic diagnosis reveals that she is a heterozygous carrier of a mutation in the X-linked fector VIII gene. What is the most likely explanation for mild expression of the disease in this individual ... 

Linked markers can be used to determine whether a family member has received the chromosome containing the disease-causing mutation or the other (unaffected) member of the chromosome pair from a carrier or affected parent (this form of genetic diagnosis is discussed further in Chapter 6). 

Linkage analysis can identify locus heterogeneity (see Chapter 1), which must be identified to perform an accurate genetic diagnosis (see Clinical Correlate). 

Direct genetic diagnosis, in which the disease-causing mutation itself is assayed, can be accomplished in a variety of ways. Here we review some of the most common techniques. 

Genetic diagnosis, which is becoming increasingly common, can be applied in a number of ways. Principal examples are discussed here. 

Individuals with a family history of an autosomal or X-linked recessive disease may wish to know whether they are a heterozygous carrier of the disease. This can be established by genetic diagnosis (e.g., for cystic fibrosis, hemochromatosis, PKU, or albinism). In some specific cases, a population at high risk for a specific disease may be screened for carrier status using genetic diagnosis (e.g., Tay-Sachs disease in the Jewish population [see Clinical Correlate]). 

A small number of fetal cells cross the placental barrier and circulate in the mother s bloodstream. These can be isolated from a sample of the mother s blood using cell-sorting techniques, and DNA can be amplified by PCR for genetic diagnosis. Although still experimental, this technique offers the advantage that there is no risk of fetal loss as a result of the procedure. 

Genetic diagnosis can be used to determine whether an individual has inherited a disease-causing gene. It is often used for carrier detection and prenatal diagnosis. 

Indirect genetic diagnosis utilizes markers (RFLPs, STRs) linked to the disease-causing gene in question. 

Direct genetic diagnosis is accomplished by looking directly at the disease-causing mutation (ASOs,... 

Excluding a genetic diagnosis can be very complex. Toddlers who exhibit deteriorating motor capabilities often present in genetics clinics subsequent to neurologic... 

Genetic diagnosis and therapy are discussed in several articles on specific diseases throughout this encyclopedia. 

Old JM Screening and genetic diagnosis of haemoglobin disorders. Blood Rev 17 43-53, 2003. 

Zhou XC, Huang LQ, Li SFY (2001) Microgravimetric DNA sensor based on quartz crystal microbalance comparison of oligonucleotide immobilization methods and the application in genetic diagnosis. Biosens Bioelectron 16 85-95... 

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