Autosomal dominant autosomal recessive inheritance

Question 1

What did Gregor Mendel’s pea plants show

Answer 1

Principle of segregation and theory of independent assortment

Question 2

What is the basic unit of heredity

Answer 2

Gene

Question 3

What are genes made of

Answer 3

DNA

Question 4

How many recessive genes do each of us carry for serious genetic conditions

Answer 4

4-8

Question 5

What is a pedigree

Answer 5

Representation of a family history in graphic form

Question 6

What does it mean if there is a square or circle with a line through it on a pedigree chart

Answer 6

Person is deceased

Question 7

What does a triangle mean on a pedigree chart

Answer 7

Abortion

Question 8

What do brackets mean on a pedigree chart

Answer 8

Adoption

Question 9

What does a bracket with a straight line indicate on a pedigree chart

Answer 9

The baby was adopted out meaning somebody else is raising them

Question 10

What do brackets with a dashed line on a pedigree chart indicate

Answer 10

Baby is not biological and was adopted in

Question 11

Principle of segregation?

Answer 11

Says that genes occur in pairs and only one gene is transmitted to offspring from each parent. Traits are not blended. Only one trait is expressed

Question 12

What is the principle of independent assortment say

Answer 12

Genes at different loci are transmitted independently

Question 13

If a trait is autosomal dominant can unaffected family members pass on the gene

Answer 13

No

Question 14

Does every affected person have an affected parent in autosomal dominant

Answer 14

Yes

Question 15

Is there a male to male transmission in autosomal dominant traits

Answer 15

Yes.

Question 16

Is postaxial polydactyly autosomal dominant or recessive

Answer 16

Dominant

Question 17

What type of Disorder is usually only found in siblings like a horizontal pattern

Answer 17

Autosomal recessive

Question 18

What type of disorder is albinism

Answer 18

Autosomal recessive

Question 19

What type of disorder is phenylketonuria (PKU)

Answer 19

Autosomal recessive

Question 20

What is phenylketonuria (PKU)

Answer 20

Individual cannot metabolize the amino acid phenylalanine

Question 21

What type of disorder is cystic fibrosis

Answer 21

Autosomal recessive

Question 22

What does cystic fibrosis affect

Answer 22

Chloride ion transport across cell membrane’s meeting to mucus buildup

Question 23

What is quasidominant inheritance

Answer 23

When a person with an autosomal recessive disorder mates with a person who is a carrier for the same disorder

Question 24

If someone who has one BRCA2 mutation what condition do they have

Answer 24

Hereditary breast and ovarian cancer syndrome (HBOC) Which increases their risk for breast, ovarian, and pancreatic cancer’s in adulthood

Question 25

If someone has tow BRCA2 mutation what condition do they have

Answer 25

Fanconi anemia (FA)

Question 26

What are the physical abnormalities of Fanconi anemia

Answer 26

Short stature, abnormal skin pigmentation, bone malformations

Question 27

What are some other clinical manifestations of someone with fanconi anemia

Answer 27

Progressive Bone marrow failure and solid tumors

Question 28

What is the protein like if someone is recessive for Familial isolated growth hormone deficiency

Answer 28

No protein is synthesized

Question 29

What is the protein like if someone is dominant for Familial isolated growth hormone deficiency

Answer 29

An abnormal proteins synthesized ans blocks the function of the normal protein

Question 30

What are those Who are heterozygous for sickle cell trait at an increased risk for

Answer 30

Splenic infarctions at a high altitude

Question 31

What is a de novo mutation

Answer 31

When neither parent is affected And one of the genes transmitted by a parent underwent a change in the DNA sequence

Question 32

What disorders are more prone to de novo mutations

Answer 32

Neurofibromastosis type 1, achondroplasia, familial adenomatous polyposis

Question 33

What disorder are more prone to germline mosaicism

Answer 33

Osteogenesis imperfecta, achondroplasia, duchenne muscular dystrophy, hemophilia a

Question 34

What is Germline mosaicism

Answer 34

When the mutation is present in a portion of the parents germline but not in other cells so they are unaffected

Question 35

What is retinoblastoma

Answer 35

Childhood Eye tumor typically presenting at three months to four years

Question 36

How is retinoblastoma typically transmitted

Answer 36

Most are somatic mutations in early development and are not inherited

Question 37

What is the most common cause of death in Huntington disease

Answer 37

Aspiration pneumonia followed by cardiorespiratory failure and subdural hematoma

Question 38

What type of disorder is Huntington’s disease

Answer 38

Autosomal dominant and triplet repeat

Question 39

What is penetrance

Answer 39

All or none; one has the disease or does not

Question 40

What is expression

Answer 40

Degree of severity of the disease phenotype. May only have 2/7 symptoms

Question 41

Clinical manifestations of neurofibromatosis type one (NF-1)

Answer 41

``` Six or more café au lait macules 2 or more neurofibromas Axillary or groin freckling Osseous lesion such as pseudosrthritis Optic glioma Two or more iris lisch nodules First-degree affected relative ```

Question 42

Allelic heterogeneity

Answer 42

Different types of mutations in the same gene can lead to different phenotypes or different disease severity

Question 43

What are modifier loci

Answer 43

Genes that interact with each other to modify phenotype

Question 44

What factors affect gene expression

Answer 44

Environmental factors, modifier loci, allelic heterogeneity

Question 45

What is locus heterogeneity

Answer 45

Mutations in multiple genes can result in similar phenotypes

Question 46

Give me some examples of locus heterogeneity

Answer 46

Lynch syndrome, osteogenesis imperfecta, autosomal dominant polycystic kidney disease

Question 47

Pleiotrophy?

Answer 47

Genes that affect multiple parts of the body

Question 48

Give it example of a disease that is pleiotrophic

Answer 48

Marfan syndrome