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vocab
exam 1
44
Other
Undergraduate 3
02/10/2013

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Term
X-Linked
Definition
X-linked is a trait where a gene is located on the X chromosome
Term
Substitution
Definition
type of mutation where one base pair is replaced by a different base pair.
also refers to the replacement of one amino acid in a protein with a different amino acid
Term
Duplication
Definition
is a type of mutation that involves the production of one or more copies of a gene or a region of a chromosome.
Term
Autosomal Dominant
Definition
is a pattern of inheritance characteristic of some genetic diseases
Term
Fragile X Syndrome
Definition
hereditary disorder affecting most males caused by mutations in the gene on the X chromosome
Term
Centromere
Definition
constricted region of a chromosome that separates it into a short arm P, and a long arm Q
Term
Allele
Definition
one of two or more versions of a gene
an individual inherits two for each gene, one from each parent
Term
Translocation
Definition
chromosomal abnormality in which a chromosome breaks and a portion of it attached to a different chromosome
Term
Stem cell
Definition
cell with potential to from many of the different cell types in the body
Term
Stop codon
Definition
one of 3 trinucleotide sequences within mRNA molecule that signals a halt to protein synthesis
Term
Apoptosis
Definition
process of programmed cell death
used during early development to eliminate unwanted cells
Term
X Chromosome
Definition
one of two sex chromosomes, females have 2 of these
Term
Y Chromosome
Definition
one of two sex chromosomes, only appear in human male
Term
Western Blot
Definition
lab technique used to detect a specific protein
method involves using gel electophoresis to seperate the samples proteins
Term
Mutation
Definition
Change in DNA sequence
Term
Base Pair
Definition
an individuals observable traits
height, weight, eye color blood type
Term
Polydactyly
Definition
an abnormality characterized by extra fingers or toes
an autosomal dominate trait
Term
Sex chromosome
Definition
#23 chromosome that participates in sex determination.
Term
Tumor suppressor gene
Definition
directs the production of a protein that is a part of the system that regulates cell division, keeps cell division in check.
when mutated it may contribute to the development of cancer
Term
BRCA1/BRCA2
Definition
first two genes found to be associated with inherited forms of breast cancer
Term
Hemophilia
Definition
inherited disease, more common in males, deficiency in blood clotting
Term
Heterozygous
Definition
having inherited different forms of a particular gene from each parent
Term
Downs Syndrome
Definition
trisomy #21
Term
Homozygous
Definition
genetic condition, individual inherits the same alleles for a particular gene from both parents
Term
Huntingtons Disease marker
Definition
inherited disease as an autosomal dominant trait, a single mutated copy of the responsible gene is sufficient to cause the disease, progressive loss of brain and muscle function.
Term
Karyotype
Definition
individual's collection of chromosomes
also a lab technique that produces an image of an individual's chromosomes.
Term
Epigenetics
Definition
emerging field of science that studies activation and deactivation of genes without any change in underlying DNA sequence
Term
Polymorphism
Definition
two or more variants of a particular DNA sequence
Term
Locus
Definition
specific physical location of a gene or other DNA sequence on a chromosome.....genetic street address.
Term
Gene
Definition
basic physical unit of inheritence
Term
Metaphase
Definition
stage during the process of cell division where unobservable chromosome condense and become distinguishable as they align in the center of the diving cell abnormalities
Term
Chromosome
Definition
an organized package of DNA found in the nucleus of a cell
Term
mRNA
Definition
single strand RNA complimetary to DNA
Term
Diploid
Definition
cell or organism that has paired chromosomes, one from each parent
Term
Pharmacogenomics
Definition
DNA and amino acid sequence data used for drug development and testing
Term
Sickle Cell
Definition
autosomal recessive caused by mutations in one of the genes to encode the hemoglobin protein
Term
Mitosis
Definition
replicates chromosomes and produces two identical nuclei in preparation for cell division
Term
Mendelian Inheritance
Definition
patterns of inheritance that are characteristic of an organism that reproduces sexually
Term
Codominance
Definition
relationship between two versions of a gene where neither allele is recessive and both alleles are expressed
Term
Meiosis
Definition
formation of egg and sperm cells
Term
Base pair
Definition
2 chemical bases bonded to one another forming a "rung" of the DNA ladder
Term
Haploid
Definition
quality of a cell or organism having a single set of chromosomes
Term
Autosome
Definition
first of the 22 pairs of chromosomes
Term
Gene amplification
Definition
increase in the number of copies of a gene sequence
ex. cancer cells sometimes produce multiple copies of genes in response to signals from other cells or their environment.
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