S1- DNA Flashcards
Genome is divided into:
2 sex
44 autosomes
37 circular mitochondrial
Chromosomes are arranged in a…
Karyotype
1% of genome is…and 99% is…
Examples of non-coding DNA are:
Coding DNA, non-coding DNA
RNAs/ promoter regions/ introns/ tandem repeats
Telomeres/ pseudogenes/ viral DNA/ junk DNA
Tandem repeats are…
They occur due to…
The are used in…
Repeated short DNA sequences
Polymerase ‘slipage’
Forensic and paternity testing
Telomeres are…
Pseudogenes are…
Short DNA sequences at end of chromosomes that shorten after each replication
DNA sequence that resembles a gene but has been mutated into an inactive form (ie: one of X genes)
Different number of chromosomes in cells:
Haploid n=23
Diploid 2n=46
Polyploid= megakaryocytes (platelets parent cells)= copy DNA without dividing to increase platelet reproduction
Hearts replicate chromosomes without division
In each woman, one X chromosome is…and it creates a…
Inactivated
Barr body
SNP is…and can occur in both…
It is a variation at a….
If more than…% of population doesn’t carry it then it is considered a SNP
This creates more than one…which leads to variation in..
Single nucleotide polymorphism
Coding and non-coding DNA
Single position in a DNA sequence among individuals
1%
Allele
Amino acid sequences (subtle effect)
6 genetic disease types and their examples;
1.SNPs and environment= hypertension
2.aneuploidy (due to non-disjunction)= Downs syndrome (trisomy 21)
3.translocation= chronic myeloid leukaemia (Philadelphia chromosome t(9;22)
4.single gene mutation= cystic fibrosis (CFTR gene)
5. Tandem repeats in coding DNA- alter protein structure= Huntington’s disease CAG repeats in Huntingtin protein
6. Mutations inherited in mitochondrial DNA
Aneuploidy is….
Wrong number of chromosomes
