Medical Genetics Chapter 1: What Is in a Human Genome?
karyotypes
A size-order chromosome chart.
multifactorial traits
A trait or illness determined by several genes and the environment
genetic population
a large collection of alleles, distinguished by their frequencies
Each consecutive three DNA bases is a code from a particular ___________ which are the building blocks of proteins
amino acid
alleles
an alternate (variant) form of a gene
pedigrees
a chart of symbols connected by lines that depict the genetic relationships and transmission of inherited traits in related individuals
All cells except what cells contain the entire genome?
red blood cells
gene expression
refers to whether a gene is "turned on" or "turned off" from being transcribed and translated into protein
Nearly all of our cells contain how many copies of a genome?
two
mutation
A change in a protein-encoding gene that affects the phenotype and is rare in a population
sex chromosomes
A chromosome containing genes that specify sex.
autosomes
A chromosome that does not have a gene that determines sex.
chromosomes
A highly wound continuous molecule of DNA and the proteins associated with it
gene pool
all genes in a population
A human somatic cell has how many pairs of chromosomes?
23 pairs (2 complete sets of genetic information)
recessive
an allele whose expression is masked by another allele
The actual building of a protein is called?
translation
Genome
Complete set of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequences
population genetics
is applied to healthcare, forensics and other fields. Also, the basis of evolution.
To produce a protein a process called __________ copies the sequence of part of one strand of DNA molecule into a related molecule of mRNA
transcription
"genetic determinism"
"we are our genes" Attributing a trait to a gene or genes
dominant
A gene variant expressed when present in one copy
exome
The 1 to 2 percent of the genome that encodes protein.
Genetics
The study of inherited traits and their variation. The study of how traits are transmitted.
Heredity
The transmission of traits and biological information between generations.
Genes
The units of heredity that are biochemical instructions that tell cells how to manufacture certain proteins. Consist of long molecules of DNA
proteins provide the ______ associated with genes, such as blood clotting factors.
traits
Bioethics
addresses moral issues and controversies that arise in applying medical technology (i.e. privacy, use of genetic information, and discrimination
differentiation
cell specialization, reflecting differential gene expression
stem cells
cells that give rise to other stem cells , as well as to cells that differentiate
Genomics
comparing and analyzing genomes to reveal how closely related we are to each other and other species.
What are the four basic tissue types in the body?
connective, epithelium, muscle, and nervous
genotype
the allele combinations in an individual that causes traits or disorders
phenotype
the expression of a gene in traits or symptoms