11.3 Study Guide

Question 1

Definitions:

Answer 1

Autosomal recessive- A genetic trait or disorder when an indivdual inherits two copies of an altered gene They are normally carriers.
Autosomal dominant-Only one copy of the mutated gene can cause a genetic condition
Sex-linked dominant-A mutated gen on the X chromosome, affect both males and females
Sex-linked recessive-Genetic mutations that happen through the X chromosome can be with the recessive phenotype
Carrier
X-inactivation-One of the two X chromosomes in females is randomly in activated
Pedigree- A visual chart that shows the phenotype and inheritance of a specific trait in a family tree.

Question 2

Important similarities and differences between different modes of inheritance: autosomal dominant, autosomal recessive, sex-linked recessive, sex-linked dominant

Answer 2

Some differences between autosomal and sex-linked is that autosomal is on the autosome or 1-22 chromosomes as sex-linked are not.

Difference between autosomal recessive and dominant is that you only need one copy for dominant but in recessive both copies have to be recessive
Similarities between all four is that the dominant you only need one copy and the recessive you only need two.

Question 3

Difference between gain of function vs. loss of function mutations

Answer 3

Gain of function creates new functions of a protein as the loss of function mutations results in protein that doesn’t function

Question 4

How to rule out different modes of inheritance on a pedigree and assign genotypes to individuals on a pedigree

Answer 4

If its y-linked the males would have it and only pass it onto their sons, if it is in every generation it is probably dominant as if it skipped a generation it would be recessive, autosomal it affects males and females equally as sex-linked show how it can affect one gender more.