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Genetic Disorders Essay

  • Submitted by:
  • on March 31, 2014
  • Category: English
  • Length: 1,112 words

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Below is an essay on "Genetic Disorders" from Anti Essays, your source for research papers, essays, and term paper examples.

GENETIC DISORDER
Disease | Gene/Defect | Inheritance | Clinical Features |
AUTOSOMAL DOMINANT |
Achondroplasia | Fibroblast growth factor receptor 3 (FGR3) – constitutively active (gain of function) | Autosomal dominant | Short limbs relative to trunk, prominent forehead, low nasal root, redundant skin folds on arms and legs |
Hypercholesterolemia | LDL receptor | Autosomal dominant | Impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease and stroke. |
Huntington Disease | Huntingtin (HD) – CAG repeat expansion within exon 1 (expansionoccurs in father) | Autosomal dominant (gain-of function mutation) Shows anticipation. | Disorder is characterized by progressive motor, cognitive and psychiatric abnormalities. Chorea – nonrepetitive involuntary jerks – is observed in 90% of patients |
Marfan Syndrome | Fibrillin-1 gene (FBN1) encodes a microfibril-forming connective tissue protein | Autosomal dominant (dominant negative effect) | Abnormalities of the skeleton(Disproportionate tall stature, scoliosis), heart (mitral valve prolapse, aortic dilatation, dissection of the ascending aorta), pulmonary system, skin (excessive elasticity), and joints (hypermobility). A frequent cause of death is congestive heart failure. |
Myotonic Dystrophy | A protein kinase gene (DMPK) – CTG repeat expansion in 3’ untranslated region of the gene | Autosomal dominant. Shows anticipation | Muscle weakness, cardiac arrhythmias, cataracts and testicular atrophy in males. Children born with congenital form have a characteristic open triangle-shaped mouth |
Neurofibromatosis I | Microdeletion at 17q11.2 involving the NF1 gene | Autosomal dominant | The disorder is characterized by numerous benign tumors (neurofibromas) of the peripheralnervous system, but a minority of patients also show increased incidence of malignancy (neurofibrosarcoma, astrocytoma, Schwann cell cancers and childhood CML – chronic myelogenous leukemia) |
Osteogenesis...

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