genetics Flashcards
what are genes?
the basic physical and functional unit of hereditary
types of genes
monogenic and polygenic
what is an allele
a copy of a gene; maternal or paternal, an alternative form of a gene
what is the locus
the specific position of a gene on a chromosome
what are single nucleotide polymorphisms SNP
positions in a gene where more than one base may be present
what are mutations
random changes
homologous pair
similar chromosomes that have same locus and can work together
types of mutation
base substitution, insertion, deletion, inversion
what is that sickle cell anemia caused of?
sickle cell anemia occurs due to a base substitution mutation, a mutation in the gene that codes beta-globing polypeptide in hemoglobin. from GAG to GUG, which codes of valine instead of glutamine.
how many chromosome do humans contain?
46
what is a genome?
the whole of the genetic information of an organism
what was the aim of the human genome project?
their aim was to find the base sequence of the entire human genome
what did the human genome project lead to?
mapping
screening
ancestry
medicine
what are plasmids?
small, circular DNA that is capable of self replication
difference between prokaryotes and eukaryotes
prokaryotes: circular DNA no bound organelles naked DNA free DNA contain plasmids no mitochondria
eukaryotes: linear DNA organelles DNA packed with histones DNA in nucleus do not contagion plasmids have mitochondria
cell size
micrometer
centromere
a point the divides the chromosome into two
how many types of chromosomes do humans have?
23
when can chromosome visible?
during mitosis and misers, because they become much shorter and fatter due to supercoiling.
what are homologous chromosomes?
chromosomes that contain:
The same structural features (e.g. same size, same banding patterns, same centromere positions)
The same genes at the same loci positions (while the genes are the same, alleles may be different)
sexual reproduction
inherit genes from the mother and father, therefore, the organism will contain two copies of a chromosome( maternal and paternal), in which they are homologous chromosomes.
gametes:
sex cells, haploid cells n, 1 copy
diploid
two chromosomes, 2n
meiosis
results in haploid n, 23 chromosomes
mitosis
results in 2n, 46 chromosomes
heterosomes
sex chromosomes, X AND Y
autosomes
rest of the chromosomes from 1-22, do not determine the sex
females heterosomes
homologous XX
male heterosomes
XY