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Superglossary - Genetics
Category: Sciences > Genetics
Date & country: 11/12/2013, US
Words: 462


Nitrogenous Base
A nitrogen-containing molecule having the chemical properties of a base. Dna contains the nitrogenou

Nonsense Mutation
A mutation in which a codon is changed to a stop codon, resulting in a truncated protein product.

Noonan Syndrome
A condition characterized by short stature and ovarian or testicular dysfunction, mental deficiency,

Northern Analysis
A technique for transferring electrophoretically resolved rna segments from an agarose gel to a nitr

Northern Blot
A gel-based laboratory procedure that locates mrna sequences on a gel that are complementary to a pi

Nuclear Transfer
A laboratory procedure in which a cell's nucleus is removed and placed into an oocyte with its own n

Nucleic Acid
A large molecule composed of nucleotide subunits.

Nucleolar Organizing Region
A part of the chromosome containing rrna genes.

Nucleotide
A subunit of dna or rna consisting of a nitrogenous base (adenine, guanine, thymine, or cytosine in

Nucleus
The cellular organelle in eukaryotes that contains most of the genetic material.

Oligogenic
A phenotypic trait produced by two or more genes working together.

Oligonucleotide
A molecule usually composed of 25 or fewer nucleotides

Oncogene
A gene, one or more forms of which is associated with cancer. Many oncogenes are involved, directly

Open Reading Frame (ORF)
The sequence of dna or rna located between the start-code sequence (initiation codon) and the stop-c

Operon
A set of genes transcribed under the control of an operator gene.

Osteogenesis Imperfecta
A condition also known as brittle bone disease

Parthenogenesis
The development of an individual from an egg without fertilization.

Patent
In genetics, conferring the right or title to genes, gene variations, or identifiable portions of se

Pedigree
A family tree diagram that shows how a particular genetic trait or disease has been inherited.

Penetrance
The probability of a gene or genetic trait being expressed. 'complete' penetrance means the gene or

Peptide
Two or more amino acids joined by a bond called a 'peptide bond.'

Phage
A virus for which the natural host is a bacterial cell.

Pharmacogenomics
The study of the interaction of an individual's genetic makeup and response to a drug.

Phenocopy
A trait not caused by inheritance of a gene but appears to be identical to a genetic trait.

Phenotype
Observable characteristics of an organism produced by the organism's genotype interacting with the e

Physical Map
A map of the locations of identifiable landmarks on dna (e.g., restriction enzyme cutting sites, gen

Pku
Phenylketonuria, an enzyme deficiency condition characterized by the inability to convert one amino

Plasmid
Autonomously replicating extra-chromosomal circular dna molecules, distinct from the normal bacteria

Plasmid
Autonomously replicating, extrachromosomal circular dna molecules, distinct from the normal bacteria

Pleiotropy
The phenomenon of variable phenotypes for a number of distinct and seemingly unrelated phenotypic ef

Pluripotency
The potential of a cell to develop into more than one type of mature cell, depending on environment.

Polycystic Kidney Disease (PKD)
A group of conditions characterized by fluid filled sacs that slowly develop in both kidneys, eventu

Polygenic Disorder
Genetic disorder resulting from the combined action of alleles of more than one gene (e.g., heart di

Polygenic Disorders
Genetic disorders resulting from the combined action of alleles of more than one gene (e.g., heart d

Polymerase
Any enzyme that catalyzes the formation of dna or rna from deoxyribonucleotides or ribonucleotides.

Polymerase (DNA Or RNA)
Enzymes that catalyze the synthesis of nucleic acids on preexisting nucleic acid templates, assembli

Polymerase Chain Reaction (PCR)
A method for amplifying a dna base sequence using a heat- stable polymerase and two 20- base primers

Polymorphism
Difference in dna sequence among individuals that may underlie differences in health. Genetic variat

Polypeptide
A protein or part of a protein made of a chain of amino acids joined by a peptide bond.

Population Genetics
The study of variation in genes among a group of individuals.

Positional Cloning
A technique used to identify genes, usually those that are associated with diseases, based on their

Prader-Willi Syndrome
A condition characterized by obesity and insatiable appetite, mental deficiency, small genitals, and

Predisposition
To have a tendency or inclination towards something in advance.

Presymptomatic Diagnosis
Diagnosis of a genetic condition before the appearance of symptoms.

Primer
Short preexisting polynucleotide chain to which new deoxyribonucleotides can be added by dna polymer

Privacy
In genetics, the right of people to restrict access to their genetic information.

Probability
The long term frequency of an event relative to all alternative events, and usually expressed as dec

Proband
Individual in a family who brought the family to medical attention.

Probe
Single- stranded dna or rna molecules of specific base sequence, labeled either radioactively or imm

Prognosis
Prediction of the course and probable outcome of a disease.

Prokaryote
Cell or organism lacking a membrane- bound, structurally discrete nucleus and other subcellular comp

Prokaryote
Cell or organism lacking a membrane-bound, structurally discrete nucleus and other subcellular compa

Promoter
A site on dna to which rna polymerase will bind and initiate transcription.

Pronucleus
The nucleus of a sperm or egg prior to fertilization.

Protein
A large molecule composed of one or more chains of amino acids in a specific order

Proteome
Proteins expressed by a cell or organ at a particular time and under specific conditions.

Proteomics
The study of the full set of proteins encoded by a genome.

Proteus Syndrome
A condition characterized by distorted asymmetric growth of the body and enlarged head, enlarged fee

Pseudogene
A sequence of dna similar to a gene but nonfunctional

Public Policy
A set of action guidelines or rules that result from the actions or lack of actions of governmental

Purine
A nitrogen-containing, double-ring, basic compound that occurs in nucleic acids. The purines in dna

Pyrimidine
A nitrogen-containing, single-ring, basic compound that occurs in nucleic acids. The pyrimidines in

Radiation Hybrid
A hybrid cell containing small fragments of irradiated human chromosomes. Maps of irradiation sites

Recessive
A gene that is phenotypically manifest in the homozygous state but is masked in the presence of a do

Recessive Gene
A gene which will be expressed only if there are 2 identical copies or, for a male, if one copy is p

Reciprocal Translocation
When a pair of chromosomes exchange exactly the same length and area of dna. Results in a shuffling

Recombinant Clones
Clones containing recombinant dna molecules. See recombinant dna technologies.

Recombinant DNA Molecules
A combination of dna molecules of different origin that are joined using recombinant dna technologie

Recombinant DNA Technology
Procedure used to join together dna segments in a cell-free system (an environment outside a cell or

Recombination
The natural process of breaking and rejoining dna strands to produce new combinations of genes and,

Regulatory Region Or Sequence
A dna base sequence that controls gene expression.

Repeat Sequences
The length of a nucleotide sequence that is repeated in a tandem cluster.

Repetitive DNA
Sequences of varying lengths that occur in multiple copies in the genome

Resolution
Degree of molecular detail on a physical map of dna, ranging from low to high.

Restriction Enzyme Cutting Site
A specific nucleotide sequence of dna at which a particular restriction enzyme cuts the dna. Some si

Restriction-Enzyme Cutting Site
A specific nucleotide sequence of dna at which a particular restriction enzyme cuts the dna. Some si

Retinitis Pigmentosa
Group of hereditary ocular disorders with progressive retinal degeneration. Autosomal dominant, auto

Retinoblastoma
A childhood malignant cancer of the retina of the eye. Reverse transcriptase viral enzyme used to ma

Retroviral Infection
The presence of retroviral vectors, such as some viruses, which use their recombinant dna to insert

Reverse Transcriptase
An enzyme used by retroviruses to form a complementary dna sequence (cdna) from their rna. The resul

Ribonucleic Acid (RNA)
A chemical found in the nucleus and cytoplasm of cells

Ribose
The five-carbon sugar that serves as a component of rna.

Ribosomal Protein
One of the ribonucleoprotein particles that are the sites of translation.

Ribosomal RNA (RMA)
A class of rna found in the ribosomes of cells.

Ribosomes
Small cellular components composed of specialized ribosomal rna and protein

Risk Communication
In genetics, a process in which a genetic counselor or other medical professional interprets genetic

Rubinstein-Taybi Syndrome
Condition with multiple congenital anomalies including

Sanger Sequence
Plus and minus or 'primed synthesis' method

Sanger Sequencing
A widely used method of determining the order of bases in dna.

Satellite
A chromosomal segment that branches off from the rest of the chromosome but is still connected by a

Scaffold
In genomic mapping, a series of contigs that are in the right order but not necessarily connected in

Segregation
The normal biological process whereby the two pieces of a chromosome pair are separated during meios

Selection
The process of determining the relative share allotted individuals of different genotypes in the pro

Sequence Assembly
A process whereby the order of multiple sequenced dna fragments is determined.

Sequence Tagged Site (STS)
Short (200 to 500 base pairs) dna sequence that has a single occurrence in the human genome and whos

Sequencing
Determination of the order of nucleotides (base sequences) in a dna or rna molecule or the order of

Sequencing Technology
The instrumentation and procedures used to determine the order of nucleotides in dna.

Sex Chromosome
The x or y chromosome in human beings that determines the sex of an individual. Females have two x c

Sex Determination
The mechanism in a given species by which sex is determined

Sex-Linked
Traits or diseases associated with the x or y chromosome