1 Human Genome Flashcards
what is a locus?
physical position of a gene in a chromosome
what is dossage?
number of copies of a given gene in the genome
like in down sd more than 2 copies
or turner just one copy
what is allele
alternative form or alternative copy of a gene in a given locus
where do we get each allele from?”
one from mom and one from dad
- homozygous (2 copies of same allele)
- heterozygous (2 differetn copies
how many base pair on a:
- kb
- Mb
- cM
- kb 1000 bp
- Mb 1 million bp
- cM (centermorgan) ~1% recombination = 1MB
what is the genetic size in cM?
for females
for males
and the average
why females more than males?
- females 4400 cM
- males 2700 cM
- sex-averaged 3700 cM
females more due to increased recombination
how many base pairs do we have in the human genome?
- 6 x 109 diploid
- 3 x 109 haploid
what is splicing?
its the editing of RNA
removing introns
and putting the exons together
is it correct to say ONE gene encodes for ONE PROTEIN?
NO… that is a very old concept.
ONE GENE can make multiple different proteins or products
For this reason, we used to say that there were 100K protein-coding genes but now we say there are 20K protein-coding genes
This is explained due to ALTERNATIVE SPLICING
what is the average size of protein-coding genes?
- 14Kb
- (range 2-2400 kb)
- there are ~10 exons/gene
what is the average # of exons per gene?
~10 exons/gene
what % of genes produce more than one mRNA (and thus, more than once protein)
60%
which one of the biggest genes?
the dystrophin gene
DNA strands are parallel or anti-parallel?
anti-parallel
what sugars are in DNA and RNA?
DNA dexosiribose
RNA ribose
which are the TWO purines and the
THREE pirimidines?
- Purines: A-G
- A adenine
- G guasnine
- Pyrimidines TUC
- C cytosine
- T Thymine
- U uracil
what are the pairs for ATCGU? foe each
- A with T
- C with G
what is DNA replication and how fast it happens?
its the DNA reproduction from 1 DNA to TWO daughters DNA
- speed of 40 nucleotides/sec i eukaryotes