Trigger 10: Genetics and obesity diseases Flashcards
(55 cards)
the human genome is made up of how many bases
3000 million
how many types of letters
4
A, T, C,G
variation is caused by the difference in
bases between person to person
Monogenic disease occur when one or two bases (in the same gene)
are mutated and inherited from one or both parents
inherited by one parents
heterozygous
inherited by both parents
homozygous
monogenic diseases are related to mutations in how many genes
1
morbidity and mortality in the 21st century is a results of
genetic and environmental factors
name an environmental factor
driving
name a genetic factor
cystic fibrosis
the majority of mortality and morbidity are
non-communicable diseases such as diabetes, heart disease and cancer which are caused by a mixture of genes and environment
single DNA change cause disease and result in a
mendelian pattern of inheritance
autosomal dominant disease
presence of one mutated allele is sufficing too cause disease (50% chance offspring will have disease too)
indel mutations lead to
frameshifts
framshifts
change the reading frame of codons, meaning codon sequences change
when codon sequences change
so do the amino acids which are coded–> deleterious effect on proteins
missense mutations
point mutations in which a single nucleotide change results in a codon that codes for another amino acid
changes ina mino acids
can change the structure of whole protein
change in amino acids can cause
disease e..g CF
CF is caused by a
sigle gene disorder, meaning inheritance follows a mendelian -recessive inheritance
recessive inheritance
causes disease when both alleles are mutated
who are at increased risk of autosomal recessive diseases
children from consanguineous marriages
- more recessive alleles in the population
what is associated with severe early -onset obesity
large, rare chromosomal deltetions
give an example of a disease caused by large rare chromosomal deletion
Prader-Willi
