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Glossary of terms used on this site

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Term Definition
Gamete

A reproductive cell, either the male sperm or the female egg.

Gas bubble treatment

Vitrectomy works by removing the vitreous (jelly-like substance) from the inside of the eye and replacing it with either a gas or silicone bubble. This holds the retina in position from the inside.

Gaucher's

Gaucher's disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.

gene

The basic biological unit of inheritance. A gene consists of the segment of deoxyribonucleic acid (DNA) which usually makes a specific protein or component of a protein. Humans have about 20,000 genes. The genes are arranged in linear order on the chromosomes.

Gene

The basic biological unit of inheritance. A gene consists of the segment of deoxyribonucleic acid (DNA) which usually makes a specific protein or component of a protein. Humans have about 20,000 genes. The genes are arranged in linear order on the chromosomes.

Gene deletion(s)

Absence of a segment of DNA. This may be very small or large enough to encompass one or more entire genes.

Gene inversion

A rearrangement in which a segment of DNA is broken away from the chromosome, inverted from end to end, and re-inserted into the chromosome at the same breakage site.

Gene tracking

Following a gene through a family by observing the inheritance of a marker which is being inherited alongside the gene.

genetic

Involving, resulting from or relating to genes.

Genetic

Involving, resulting from or relating to genes

Genetic counselling

The process by which information on genetic disorders is given to a family and supporting them in making their own decisions.

Genetic counsellor

An individual who leads the process of genetic counselling - the method by which information on genetic disorders is given to a family.

Genetic heterogeneity

Genetic heterogeneity. The production of apparently identical disorders by different genetic mechanisms or by genes at different loci. Retinitis Pigmentosa is an example of a condition showing genetic heterogeneity - it can be inherited in an autosomal dominant, autosomal recessive or X-linked manner.

Genetic testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

Geneticist

An individual working in the field of genetics including scientists who carryout research into genetics and physicians who diagnose, treat, and counsel individuals and families with a genetic condition.

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