Human altered genes can cause diseases {genetic disease} {human inherited disease}.
tests
DNA analysis can identify more than 200 inherited diseases. Genetic-disease testing can use amniotic-fluid cells, chorionic-villi cells on placenta fetal side, umbilical-cord blood cells, or cheek cells.
chromosomal abnormalities
Chromosomal abnormalities cause inherited diseases, such as Becker muscular dystrophy, Burkitt's lymphoma, chronic granulomatous disease, DiGeorge syndrome, Duchenne muscular dystrophy, Lowe syndrome, chronic myelogenous leukemia, neurofibromatosis learning disorder, Prader-Willi, retinoblastoma, and Wilm's tumor.
Fluorescent in-situ hybridization (FISH) tests for aneuploidy, BCR/ABL translocation or Philadelphia chromosome, cryptic translocation, Down's syndrome, Klinefelter's syndrome, Miller-Dieker syndrome, PML/RARA translocation, steroid sulfatase deficiency or X-linked ichthyosis, Turner's syndrome, velocardiofacial/DiGeorge syndrome, and William's syndrome.
gene probe
PCR followed by electrophoresis can make many genes for testing and sequencing. Mutant alleles can hybridize to allele-specific oligonucleotides. Tests can use mutated-gene-region genetic probes: adenosine deaminase deficiency, alpha1-antitrypsin deficiency, cystic fibrosis, Fabry disease, familial hypercholesterolemia, Gaucher's disease, glucose-6-phosphate dehydrogenase deficiency, hemophilia A, hemophilia B, Lesch-Nyan, maple syrup urine disease, ornithine transcarbamylase deficiency, phenylketonuria, retinoblastoma, Sandhoff disease, sickle-cell anemia, Tay-Sachs disease, alpha-thalassemia, beta-thalassemia, and von Willebrand disease. Sickle-cell anemia alters restriction-enzyme sites. Alpha1-antitrypsin inhibits elastase.
gene probe: oncogenes
Cancer oncogenes include colon-cancer gene, myc gene, ras gene, neu gene, int-2 gene, BRCA-1 and BRCA-2 gene, and retinoblastoma gene. myc gene causes lung cancer and neuroblastoma. BRCA-1 and BRCA-2 genes cause breast cancer.
gene product
Tests can check gene products. Hemophilia has altered Factor VII. Lesch-Nyan syndrome has altered hypoxanthine phosphoribosyltransferase. Thalassemias have altered globin.
protein
Enzyme and protein assays can identify over 40 inherited diseases, such as Angelman syndrome, breast cancer (BRCA-1) (BRCA-2), citrullinemia, Canavan disease, Charcot-Marie-Tooth, Factor V Leiden mutation, familial polyposis coli, familial Mediterranean fever, Gaucher's disease, hemochromatosis, Hunter's syndrome, Kennedy disease or spinal and bulbar muscular dystrophy, Lesch-Nyan syndrome, Machado-Joseph disease, metachromatic leukodystrophy, multiple endocrine neoplasia type 1, phenylketonuria, Pompe's disease, Sanfilippo B, spinal muscular atrophy, spinocerebellar ataxia, Tay-Sachs disease, von Hippel-Lindau disease, Waardenburg syndrome type 1, Wilson's disease, and x-linked lymphoproliferative disease. Antibodies can detect mutant proteins, such as BRCA-1, BRCA-2, and Fragile X. Sickle-cell anemia changes protein mobility.
RFLP markers
Tests can use linked RFLP markers: alpha1-antitrypsin deficiency, Duchenne muscular dystrophy, Factor X deficiency, Friedreich's ataxia, hemophilia, Huntington's disease, myotonic dystrophy, and phenylketonuria.
Southern blotting
Southern blotting can test for sequence changes, as in sickle-cell anemia. Southern blotting can test for RFLPs, VNTRs, or triplet repeats, as in Huntington's disease and JFOM's disease. In Fragile X syndrome, FMR1-gene amplification causes Xq27 X-chromosome structural defect, which causes mental retardation.
Biological Sciences>Medicine>Disease>Kinds>Genetic Disease
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Date Modified: 2022.0224