Focus on Genetic Screening ResearchNova Publishers, 2006 - 149 páginas Gene tests (also called DNA-based tests), the newest and most sophisticated of the techniques used to test for genetic disorders, involve direct examination of the DNA molecule itself. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for several reasons, including: Carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed; Preimplantation genetic diagnosis prenatal diagnostic testing new-born screening; Presymptomatic testing for predicting adult-onset disorders such as Huntington's disease; Presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease; and Confirmational diagnosis of a symptomatic individual forensic/identity testing. In gene tests, scientists scan a patient's DNA sample for mutated sequences. A DNA sample can be obtained from any tissue, including blood. probes, whose sequences are complementary to the mutated sequences. These probes will seek their complement among the three billion base pairs of an individual's genome. If the mutated sequence is present in the patient's genome, the probe will bind to it and flag the mutation. Another type of DNA testing involves comparing the sequence of DNA bases in a patient's gene to a normal version of the gene. This book gathers important research in this field. |
Índice
| 1 | |
Anxiety of Pregnant Women after Prenatal Amniocentesis and Genetic Testing | 27 |
Mendelian Disorders among Jews and Population Screening for Reproductive Purposes | 57 |
Polymorphisms of Human Platelet Receptor Genes Clinical Relevance and Diagnostic Approaches | 73 |
New Approach for Important Factor Selection from High Dimensional Bioinformatics Data | 95 |
Application of Microsatellite Marker Analysis | 121 |
| 141 | |
Términos y frases comunes
accuracy acute leukemia alloantigens amino acid amniocentesis amplified antigen anxiety level anxiety scores Ashkenazi Jewish Ashkenazi Jews associated BFCS blinded data set blood Bugert carrier CBAVD CF alleles CF patients CFTR gene CFTR mutations chromosomes class predictor clinical common consanguinity marriage constructed couples cystic fibrosis cystic fibrosis mutations deletion detection diallelic disease disorders exons fetal DNA fetus FNN models FNN-SWEEP founder mutation frequency fuzzy gene expression genes selected genetic amniocentesis genetic counseling genetic screening genetic testing genome genotype glycoprotein Greek haplotype heterozygotes homozygous Hum Genet identified individuals input intron Kanavakis male infertility marker genes maternal method microarray microsatellite microsatellite markers modeling data set molecular mutation analysis mutations P-selectin parental PECAM-1 phenotype platelet polymorphisms positive test result pregnant women prenatal diagnosis prenatal screening previous child primers procedure protein psychological reported sample Schwann cells sequence SNPs syndrome Table trait anxiety variable