Diseases of the Patterns of Inheritance

Question 1

Examples of Autosomal Recessive Genetic Disorders

Answer 1

Cystic Fibrosis
Phenylketonuria
Sickle Cell Anemia
Xeroderma Pigmentosum
Tay Sach’s Syndrome
Albinism

Question 2

Autosomal Recessive Disorder:

Caused by the absence of phenylalanine hydroxylase enzyme activity

Answer 2

Phenylketonuria

Question 3

Autosomal Recessive Disorder:

The ability to repair damage causes by UV light is deficient

Answer 3

Xeroderma Pigementosum

Question 4

Autosomal Recessive Disorder:

Abnormal hemoglobin molecules aggregate to form rods

Answer 4

Sickle Cell Anemia

Question 5

What are the 4 subunits of hemoglobin

Answer 5

2 alpha-globins
2 beta-globins

Question 6

Abnormal version of beta-globin

Answer 6

Hemoglobin S

Question 7

In Sickle Cell Anemia, Glutamic Acid is replaced by?

Answer 7

Valine

Question 8

Autosomal Recessive Disorder:

Affects glands that produce mucus and digestive enzyme, as well as those that produce sweat

Answer 8

Cystic Fibrosis

Question 9

In Cystic Fibrosis, production of thick mucus in the lungs is caused by what

Answer 9

Faulty chloride ion channels

Question 10

what does CFTR mean

Answer 10

Cystic Fibrosis Transmembrane Conductance Regulator

Question 11

Autosomal Recessive Disorder:

A genetic condition which is the loss of pigment in the hair, skin, and eyes

Answer 11

Albinism

Question 12

Two types of Albinism

Answer 12

Oculocutaneous Albinism
Ocular Albinism

Question 13

Most common type of Albinism

Answer 13

Oculocutaneous Albinism

Question 14

Type of albinism that mainly affects the eyes

Answer 14

Ocular Albinism

Question 15

Examples of Autosomal Dominant Genetic Disorders

Answer 15

Achondroplasia
Brachydactyly
Familial hypercholesterolemia
Marfan Syndrome
Porphyria
Progeria
Huntington’s Disease

Question 16

Autosomal Dominant Disorder:

Dwarfism associated with abnormalities in growth

Answer 16

Achondroplasia

Question 17

Achondroplasia is caused by the mutation of what

Answer 17

Fibroblast Growth Factor Receptor 3

Question 18

Autosomal Dominant Disorder:

A genetic disorder characterized by high cholesterol levels, specifically LDL

Answer 18

Familial Hypercholesterolemia

Question 19

Autosomal Dominant Disorder:

Excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues

Answer 19

Marfan Syndrome

Question 20

Cause of Marfan Syndrome

Answer 20

Misfolding of Fibrillin-1

Question 21

Autosomal Dominant Disorder:

Group of rare diseases in which chemical substances called porphyrins accumulate with high metabolism

Answer 21

Porphyria

Question 22

Part of hemoglobin that carries oxygen

Answer 22

Heme

Question 23

Autosomal Dominant Disorder:

Caused by mutation in which the person ages rapidly

Answer 23

Progeria

Question 24

Cause of Progeria

Answer 24

Mutation of LMNA gene

Question 25

Responsible for making Lamin A

Answer 25

LMNA gene

Question 26

Structural form of Lamin

Answer 26

Progerin

Question 27

Autosomal Dominant Disorder: Central nervous system breaks down at the age of 30

Answer 27

Huntington's Disease

Question 28

Huntington's Disease has a mutation of what gene?

Answer 28

Huntingtin

Question 29

Building blocks of DNA that repeat more than they normally do in Huntington's Disease

Answer 29

Cytosine Adenine Guanine

Question 30

In X-Linked Recessive, Males are ________ for gene of X

Answer 30

Hemizygous

Question 31

Examples of X-Linked Recessive Disorders

Answer 31

Duchene Muscular Dystrophy Hemophilia Fragile X Syndrome

Question 32

In DMD, what protein is encoded that supports plasma membrane during contraction

Answer 32

Dystrophin

Question 33

X-Linked Recessive Disorder: Lack of clotting

Answer 33

Hemophilia

Question 34

Most common form of X-Linked Hemophilia

Answer 34

Hemophilia A

Question 35

X-Linked Recessive Disorder: Appearance of a gap(fragile site) in the distal part of the long arm of the x chromosome

Answer 35

Fragile X Syndrome

Question 36

This is molecularly analyzed for diagnosis of Fragile X Syndrome

Answer 36

CGG Trinucleotide Repeat Expansion Gene

Question 37

Human gene that codes for a protein called fragile X mental retardation protein (FMRP)

Answer 37

Fragile X Mental Retardation 1 (FMR1)

Question 38

This protein regulates the production of other proteins and plays a role in the development of synapses which are specialized connection between nerve cells

Answer 38

Fragile X Mental Retardation Protein

Question 39

IQ range of males with Fragile X Syndrome

Answer 39

20-80 (Mean of 50)

Question 40

Second most common genetic cause of severe learning difficulties

Answer 40

Fragile X Syndrome

Question 41

X-Linked Dominant Disorders

Answer 41

X-Linked Hypophosphatemia Alport Syndrome

Question 42

X-Linked Dominant Disorder: An X-linked dominant form of Rickets

Answer 42

X-Linked Hypophosphatemia

Question 43

In X-Linked Hypophosphatemia, ingestion of what vitamin is relatively ineffective

Answer 43

Vitamin D

Question 44

What protein regulates Fibroblast Growth Factor 23

Answer 44

PHEX

Question 45

X-Linked Dominant Disorder: Mutations in the genes involved in collagen type IV biosynthesis

Answer 45

Alport Syndrome

Question 46

In Alport Syndrome, what gene is mutated

Answer 46

COL4A5 gene