Intro Flashcards
(23 cards)
What determines who we are as individuals
Genome
define genome
operating system that contains a complete set of genetic materials, including all of its genes
When does the execution of the genomic program start?
As soon as the sperm fertilizes the egg (ends when we die)
Is it possible to have the same genome as another person?
identical twins or cloning something
How many chromosomes do we have?
23 pairs (46 in total) of chromosomes (22 pairs of autosomes and one pair of sex chromosomes)
T or F: this is the Book of life in order -> Genome, chromosome, genes, nucleotides, and lastly, codons
F: the answer is Genome, chromosome, genes, Codons, and lastly, Nucleotides
Where do we get our genomes from?
parents (1 from mum and 1 from dad)
Which Copy of the Genome Do we Pass to our Children? (i.e., is it the Paternal or the Maternal?)
None: Each meiosis results in the formation of a new copy of the genome. Crossing over leads to the shuffling of the maternal and paternal genome
Are all chromosomes equal?
Vary in size and number of genes they contain. each pair of a chromosome contains the same genes (except x and y chromosomes). loss of gain of one whole copy of a chromosome is usually lethal (except 21,18 13 and sex chromosomes)
3 copies of chromosome 21 causes?
Down syndrome
Chri du chat syndrome is caused by (and from what chromosome)?
Chromosome 5 and its from a small deletion
Are all genes essential for life?
No, u can lose some without any clinical consequences but others are essential for life. most genes when defective are expressed to cause a disease though (single gene disorders)
non-syndromic polydactyly?
More digits in hands or feet without abnormalities, due to single gene mutations
hypertrichosis?
Mutations in a gene that is responsible to prevent hair growth on cheeks forehead etc..
albinism?
complete or partial absence of the pigment of skin, caused by a defect in a single gene encoding a protein involved in pigment synthesis
Sickle cell disease?
caused by a specific mutation in the beta globin gene (HBB)
How many of these single gene disorders do we know so far?
7000
what happens when a person have a gene defect?
Can be resistant or susceptible to certain infections.
For example:
people with loss of function mutations in both copies of the CCR5 are highly resistant to infection by the HIV virus.
also, those who have HBB gene mutation are resistant to malaria
EVER 1 or EVER 2 cause?
tree man syndrome (immune deficiency) -> persistent HPV virus leading to this appearance
are all genetic diseases caused by diseases inherited from parents?
Most are, however, sometimes abnormality occurs while the sperm, egg, or early embryo is being formed or developed
is type 2 diabetes genetic?
Not purely, it’s multifactorial caused by susceptibility genes within the genes and a contribution of the environment.
Is cancer genetic?
Always associated with genetic alterations in certain genes (not inherited in the vast majority of cases though).
what type of genetic disorder is common in the UAE
AUTOSOMAL RECESSIVE