monogenic diseases Flashcards
segregation analysis: explain the utility of familial segregation analysis, summarise a family history by generating a pedigree diagram
segregation analysis definition
determine whether there is evidence that a major gene underlies the distribution of a given phenotypic trait; determines whether it is Mendelian dominant, recessive or codominant
why is genetic family history taken
identifies genetic disease, inheritance pattern, aids diagnosis, assists management and identifies those at risk
basis of Mendelial inheritance
two alleles in homologous chromosomes for each trait separate during gamete formation and unite at fertilisation
monogenic pattern of inheritance
clear inheritance, no environment, rare
monogenic diseases
Huntington’s, haemophilia A and B, CF,
complex disorder pattern of inheritance
no clear inheritance, environment essential, common
complex diseases
obesity, type 2 diabetes, Parkinson’s disease
pedigree diagrams purpose
identify family history
