14.2 Human Genetic Disorders Flashcards
Changes in the genes DNA sequence can alter
Proteins and phenotypes
There is a ____ basis for genetic disorders
Molecular
How many types of genetic disorders are there
3
What are the three types of genetic disorders
Autosomal disorders chromosomal disorders and sex linked disorders
Autosomal disorders
Genetic disorders In autosomes
What are some examples of autosomal disorders
Sickle cell disease cystic fibrosis Albinism and Huntington’s disease
Capillary
Narrowest blood vessel in the body
What is Huntington’s disease caused by
A dominant allele for protein found in brain cells
Neurons breaking down
What does Huntington’s disease cause
Mental deterioration uncontrollable movements
When does Huntington’s disease usually appear
Middle-age
Who is Huntington’s disease recessive or dominant
Dominant
Chromosomal Disorders
Incorrect number/structure of chromosomes
What are some examples of chromosomal disorders
Down syndrome turner syndrome and Klinefelter syndrome
Down syndrome is also known as
Trisomy 21
Trisomy
Three copies of a chromosome
What is the most common trisomy
Down syndrome
What is down syndrome caused by
Three copies of chromosome 21
What does down syndrome cause
Mental retardation and high frequency of birth defects such as height face and heart problems
What is turner syndrome caused by
Nondisjunction of the X chromosomes
What does turner syndrome cause
Women to only inherit one X-chromosome which causes their sex organs to not to develop properly during puberty
Woman with turner syndrome are
Sterile
Turner syndrome is a
Monosomic condition
Monosomic
Missing a chromosome
What is Klinefelters syndrome caused by
Nondisjunction in males which causes them to have an extra X chromosome
What does Klinefelter syndrome cause
Men are not able to reproduce
Because no babies have been born without the X chromosome scientists have concluded that
It contains genes in this area for development and survival
Nondisjunction
One homologous chromosomes failed to separate and anaphase one
How many types of nondisjunction are there
Two
Nondisjunction is more common in
Older females
What are the two different types of nondisjunction
Nondisjunction in meiosis one and Nondisjunction in meiosis two
What does nondisjunction in meiosis one result in
2 gametes: n+1
2 gametes: n - 1
N
A single set of chromosomes
Nondisjunction in meiosis two results in
1 gamete: n + 1
1 gamete: n - 1
2 gametes: n
What are examples of sex Linked disorders
Hemophilia and red green color blindness 
Hemophilia
Blood clotting disorder which causes people to not blood clot when they need to
What is hemophilia caused by
A missing gene
Hemophiliac is more common in
Males
Red green color blindness
Cannot see red or green
Red green color blindness is more common in
Males
Albinism
disorder which causes your skin, hair,etc. cells to not produce melanin
Is Albinism recessive or dominant
recessive
