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7 Cards in this Set

  • Front
  • Back

Genetic disease

Can be caused by abnormality of 1 or more genes and can be:



-inherited (according to mendelian principles)



-new mutation and then inherited




(Chromosome abnormalities are raely inheritable)

Single gene disorders

-autosomal dominant


-autosomal recessive


-sex-linked


Polygenic disorders

Many traits are determined by combined action of several genes at different loci e.g. hair and eye colour.

Autosomal dominant

-All heterozygote offspring are affected


-affects all generations


-m/f equally


- homozygote offspring affected are rare but are worse thsn heterozygotes.

Single gene disorder with recessive inheritance

-Requires both parents to carry abnormal gene.



-M/f equally



-skips generations

X-linked recessive Inheritance

-gene is on X chromosome


-males have 50% of being carriers and woman are normally carriers

Chromosome abnormalities

Polypoid(multiples of 23 (not 46)




Aneuploidy (chromosomes gained or lost: trisomy (chromosome increased) or monosomy (chromosome decreased)