genetics Flashcards
A single copy of a mutated gene from one parent is enough to cause the disorder. A child of an affected person has a 50% chance of inheriting the disorder. will not skip a generation.
autosomal dominant disorders
Huntington’s disease and Marfan syndrome, aniridia, achondroplasia, familial hypercholesterolemia.
autosomal dominant
- an affected offspring usually has one or both affected parents
- an affected individual with only one affected parent is expected to produce 50% affected offspring
- two affected, heterozygous, individuals will have 25% unaffected offspring
- the trait occurs with the same frequency in both sexes
- homozygote more severely affected with disorder
autosomal dominant
Two copies of a mutated gene, one from each parent, are required to cause the disorder. Parents of an affected individual are usually carriers, meaning they each have one copy of the altered gene but typically don’t show symptoms of the disorder. may skip a generation.
autosomal recessive disorders
cystic fibrosis, sickle cell disease, phenylketonuria, albinism, tay Sachs, sandhoff, lesch-nyhan syndrome
autosomal recessive
difference between autosomal dominant vs autosomal recessive
Autosomal dominant traits pass from one parent onto their child. Autosomal recessive traits pass from both parents onto their child.
In this pattern, affected males can pass the condition to both their daughters and sons, while affected females can also pass it to both their sons and daughters.
x linked dominant
- males often more severely affected
- females may be less affected due to wild type copy on the other X chromosome
- females more likely to exhibit the trait when it is lethal to males
- affected mothers have 50% chance of passing the trait to daughters
x linked dominant
vitamin D resistant rickets
rett syndrome
aicardi syndrome
incontinentia pigmenti
x linked dominant
In this pattern, affected males pass the condition to their sons, while affected females are usually carriers but not typically affected themselves.
x linked recessive
- males are much more likely to exhibit the trait
- mothers of affected males often have brothers or fathers who are affected with the same trait
- daughters of affected males will produce 50% affected sons
x-linked recessive
important things about x linked
- Fathers can only pass X chromosomes to their daughters and Y chromosomes to their sons.
- Examples of X-linked conditions include hemophilia, Duchenne muscular dystrophy, and red-green color blindness.
Duchenne muscular dystrophy
hemophilia A
hemophilia B
androgen insensitivity syndrome
x linked recessive disorders
- frequently, an affected offspring will have two unaffected parents
- when two unaffected heterozygotes have children, the percentage of affected children is 25%
- two affected individuals will have 100% affected children
- the trait occurs with the same frequency in both sexes
features of autosomal recessive