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Tag: Genetic Definitions II

Proactive Medical Testing Part II – XCode Life and Invatie

March 3, 2019 Sarah

So you have weighed all the pros and cons of Medical Testing and have decided to test. I am going to go through my three

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Genetic Definitions II

DELETION:
The loss of some genetic material from a chromosomes. .

DNA (DEOXYRIBONUCLEIC ACID):
The chemical compound that makes up genes within chromosomes and is the basic material of heredity. It is made up of chemicals called nucleotide bases, linked together in a chain. Two chains of nucleotides twist around each other to form a double helix.

DNA SEQUENCING:
Determining the pattern or order in which the nucleotide bases occur in a piece of DNA. This sequence is the genetic code.

DOMINANT:
Every cell contains two copies of each gene. Where only one of the gene copies or allele is mutated, and the other allele is ‘correct’, but the person is affected by a genetic condition due to that mutation, the mutation is described as dominant. The mutated gene is said to be dominant over the other ‘correct’ copy of the gene. A condition or characteristic caused by a dominant gene mutation only requires one of the genes to be mutated for the person to be affected.

DOUBLE HELIX:
The structural arrangement of DNA. The bases (basic chemical building blocks) pair up to form rungs on a ladder twisted into a helix, or coil.

FAMILY HISTORY:
A record of the health conditions of different members within a family, across generations.

GAMETE:
Refers to the sperm cells in males and the egg cells in females.

GENE:
The basic unit of heredity; a segment of DNA which contains the information for a specific characteristic or function.

GENETIC CODE:
The information contained in the DNA which is ‘interpreted’ by the cells to produce proteins. The chemicals (nucleotides) which make up the DNA can be described by the letters A (Adenine), T (Thymine), C (Cytosine) and G (Guanine). Thus the genetic code can be written as a series of letters (for example AAA CGT TTC).

GENETIC CONDITION:
A genetic condition is caused by a change in the genetic information. Genetic conditions may be caused by a mutation in a single gene or may be caused by a change in chromosome structure or number.

GENETIC COUNSELLING:
The provision of diagnosis, information and support by health professionals with specialised training in genetics and counselling.

GENETIC MAPPING:
Determination of the relative positions of genes on a chromosome and a measure of the distance between them.

GENETIC PREDISPOSITION:
Having some genetic factor(s) that may make an individual more likely to develop a particular condition than the general population.

GENETIC TESTING:
Analysis of an individual’s genetic make-up to determine predisposition to a particular health condition or to confirm a diagnosis of a genetic condition. Other applications for genetic testing include forensic DNA analysis (used in criminal investigations) and paternity testing (to determine the father of an individual).

GENOME:
The complete set of genes carried by an individual or a cell.

GENOTYPE:
The genetic constitution of an individual

HAPLOID NUMBER:
This is the number of chromosomes in the sex cells (sperm or egg). There is one copy of each chromosome. In humans, the haploid number is 23.

HAPLOTYPE:
A set of closely linked alleles on a chromosome that is normally inherited as a block.

HEREDITARY:
The transfer of a gene from parent to child. In mothers, the gene is transferred via the DNA in the egg and in fathers the gene is transferred via the DNA in the sperm.

LINKAGE:
The tendency for genes or segments of DNA which are located close together on the same chromosome to be inherited together.

LOCUS:
The position on a chromosome of a segment of a gene .

MARKER CHROMOSOME:
A chromosome, or part of a chromosome, usually small, of unknown origin.

MITOCHONDRIA:
These structures or organelles in the cell are the main energy source and are often called the powerhouse of the cell. The mitochondria also contain their own DNA and therefore genes. Mitochondrial genes follow maternal inheritance.

MULTIFACTORIAL INHERITANCE:
A pattern of inheritance which results from the interaction of one or more genes with environmental factor(s).

 

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