Medical genetics
Article Abstract:
A technique called positional cloning has allowed the determination of the genetic defect underlying several diseases. This technique allows scientists to pinpoint the defective gene responsible for a disease even though they know little about the gene product or how it causes the disease. Examples of genetic mutations discovered in this way include the ATM gene mutation that causes ataxia-telangiectasia. The NCL1 mutation on chromosome 1 appears to be responsible for the infantile subtype of neuronal ceroid lipofuscinosis, which is characterized by abnormalities in fatty acid metabolism. Adult polycystic kidney disease has been traced to the PKD1 gene on chromosome 16. The BRCA1 and BRCA2 genes have been linked to familial breast cancer. Gene therapy is a promising technique that is severely hampered by the lack of an organism that can effectively introduce normal genes into cells to correct the genetic deficiency.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1996
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Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
Article Abstract:
Mutation in the DAX1 gene which causes adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) may be detected by sophisticated molecular testing. AHC is incomplete development of the adrenal gland that can lead to HH, which is a dysfunction of the sex glands. Males with AHC from four families underwent molecular genetic testing. DNA was examined using the polymerase chain reaction (PCR), and males were diagnosed by analyzing PCR amplification. Mothers carrying the X-linked gene may be diagnosed by fluorescence in situ hybridization analysis. Early diagnosis of this disorder is important so that adrenal insufficiency can be treated. Treatments include glucocorticoid and mineralocorticoid replacement, and testosterone and pulsatile gonadotropin-releasing hormone.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1995
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The Multifaceted Challenges of Proteus Syndrome
Article Abstract:
The causes of, diagnosis, and treatment of Proteus syndrome is reviewed, using the case of a five-year-old boy as an example. Proteus syndrome is characterized by excessive growth of many different kinds of tissues, including skin, bone, connective tissues, nerves, and internal organs. It causes skeletal deformities, benign and malignant tumors, deep vein thrombosis, and pulmonary embolism.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2001
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