Education

Dr. Kennedy’s Vocabulary Course for 3/14/2009

Genetic transport disease:  Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special carrier proteins. The receptor recognizes the molecule and receives it on the cell membrane. Then the molecule hitches a ride through the cell membrane on the back of a carrier protein. With such remarkable specificity, it is little wonder that sometimes there are defects in transport systems. Several dozen different diseases are now known to be due to transport defects. Am example of a transport disease is cystinuria, the most common defect known in the transport of an amino acid (namely, cystine) and a significant cause of kidney stones. Like cystinuria, all transport defects are genetic (inherited).

Genetic transposition:  The ability of genes to change position on chromosomes, a process in which a transposable element is removed from one site and inserted into a second site in the DNA. Genetic transposition was the first type of genetic instability to be discovered.

Genetics:  The scientific study of heredity. Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, various plant genetics etc.

Genital:  Pertaining to the external and internal organs of reproduction.

Genital herpes:  A viral infection transmitted through intimate contact with the moist mucous linings of the genitals. This contact can involve the mouth, the vagina or the genital skin. The herpes simplex type 2 (HSV-2) enters the mucous membranes through microscopic tears. Once inside the body, HSV-2 travels to nerve roots near the spinal cord and settles there permanently. When an infected person has a herpes outbreak, the virus travels down the nerve fibers to the site of the original infection and when it reaches the skin, the classic redness and blisters occur. Outbreaks of genital herpes are closely related to the functioning of the immune system. Women who have suppressed immune systems, either through stress, disease, or medications, have more frequent and longer-lasting outbreaks.

Genital wart:  A wart in the moist skin of the genitals or around the anus. Genital warts are due to a human papillomavirus (HPV). The HPVs, including those that cause genital warts, are transmitted through sexual contact. HPV can also be transmitted from mother to baby during childbirth. Most people infected with HPV have no symptoms, but these viruses increase a woman’s risk for cancer of the cervix. HPV infection is the most common sexually transmitted disease in the US. It is also the leading cause of abnormal PAP smears and pre-cancerous changes of the cervix in women. There is no cure for HPV infection, although anti-viral medications can reduce outbreaks and topical preparations can speed healing. Once contracted, the virus can stay with a person for life. Also called condyloma acuminatum, condylomata. There is now a controversial vaccine against HPV.

Genitourinary (GU):  Pertaining to the genital and urinary
Genitalia:  The male and female reproductive organs. The genitalia include internal structures such as the ovary, and external structures such as the penis.
systems, more commonly termed urogenital.

Genome:  All of the genetic information, the entire genetic complement, all of the hereditary material possessed by an organism. Humans and many other higher animals actually have two genomes, which together make up the total genome: A chromosomal genome — inside the nucleus of the cell in the familiar form of chromosomes; and a mitochondrial genome — outside the nucleus in the cytoplasm of the cell, usually in the form of one round chromosome (the mitochondrial chromosome).

Genome annotation:  The process of identifying the locations of genes and all of the coding regions in a genome and determining what those genes do. An annotation (irrespective of the context) is a note added by way of explanation or commentary. Once a genome is sequenced, it needs to be annotated to make sense of it.

Genome Database:  The official central repository for genomic mapping data resulting from the Human Genome Initiative. It was established at Johns Hopkins University in Baltimore, Maryland, USA in 1990. In 1999, the Bioinformatics Supercomputing Centre (BiSC) at The Hospital for Sick Children in Toronto, Ontario, Canada, assumed the management of GDB.

Genomic:  Pertaining to the genome, all of the genetic information possessed by any organism.

Genomic imprinting:  The phenomenon of parent-of-origin gene expression. The expression of a gene depends upon the parent who passed on the gene. For instance, two different disorders – Prader-Willi syndrome and Angelman syndrome — are due to deletion of the same part of chromosome 15. When the deletion involves the chromosome 15 that came from the father, the child has Prader-Willi syndrome, but when the deletion involves the chromosome 15 that came from the mother, the child has Angelman syndrome. Genomic imprinting plays a critical role in fetal growth and development. Imprinting is regulated by DNA methylation and chromatin structure.

Genomic library:  A collection of clones made from a set of randomly generated overlapping DNA fragments representing the entire genome of an organism.

Genoplasty:   A technology that uses the repair mechanisms normally present in cells to repair gene defects.

(View Course for 3/14/2009)








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Ron Kennedy, M.D.

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