AUTOSOMAL RECESSIVE DISEASES

Question 1

an autosomal recessive disorder caused by a severe deficiency of the enzyme phenylalanine hydroxylase (PAH) and the resultant hyperphenylalaninemia.

Answer 1

Pku

Question 2

Pku gene

Answer 2

PAH

Question 3

Pku mol lesion

Answer 3

Splice-site mutation: reduced amount

Question 4

Pku protein

Answer 4

Phenylalanine hydroxylase

Question 5

Must/Mousy odor in the breath, skin, or urine, caused by too

much phenylalanine in the body.

Neurological problems that may include seizures.

Skin rashes like eczema

Children: Mental Retardation and Microcephaly

Answer 5

Pku

Question 6

An autosomal recessive disorder resulting in water imbalance in tissues of the pancreas, intestine, sweat glands, and lungs due to impaired transport; leads to lung damage.

There is an irregularity in salt and water balance

Answer 6

Cystic fibrosis

Question 7

CF gene

Answer 7

cystic fibrosis transmembrane conductance regulator (CFTR) gene

Question 8

CF mol lesion

Answer 8

Deletions and other mutations: nonfunctional or misfolded
proteins

Question 9

CF protein

Answer 9

cystic fibrosis transmembrane conductance regulator (CFTR) protein

Question 10

recurring chest infections
difficulty putting on weight
frequent, wet-sounding coughs
diarrhea
occasional wheezing and shortness of breath
very salty sweat

Answer 10

CF

Question 11

A sweat test checks for high levels of chloride in your sweat.

newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical

evaluation at a ___ Foundation-accredited care center.

Answer 11

CF

Question 12

An autosomal recessive disorder caused by a mutation in the hemoglobin beta gene.

There is an altered form of the protein hemoglobin,

Answer 12

Sickle cell

Question 13

Sickle cell gene

Answer 13

hemoglobin beta gene (HBB) found on chromosome 11p15. 5.

Question 14

Sickle cell mol lesion

Answer 14

Point mutations: abnormal structure

Question 15

Sickle cell proteins

Answer 15

Glutamate of Valine

Question 16

an autosomal recessive inherited disorder that increases the risk
of developing skin cancer once exposed to UV rays from the sun.

demonstrates extreme photosensitivity, malignant tumors, and dry skin and

Answer 16

Xeroderma pigmentosum

Question 17

Xeroderma pigmentosum genes

Answer 17

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, and XPC

Question 18

XP proteins

Answer 18

XPA, XPC, XPD, and XPV proteins.

Question 19

Skin Dryness, Thinning, and
Wrinkling
Blistering and irregular Dark Spots
Corneal Clouding
Skin Cancer (Melanoma, Basal Cell
Carcinoma, and Skin Cell
Carcinoma)

Answer 19

Xp

Question 20

A rare and inherited lysosomal storage disorder that causes problems with metabolism of fatty acids

Answer 20

tay-sachs disease

Question 21

Tay sachs gene

Answer 21

Hexosaminidase gene

on chromosome 15q 24.1

Question 22

Tay sachs mol lesion

Answer 22

Splice-site mutation or frameshift mutation with stop
codon: reduced amount

Question 23

Tay sachs protein

Answer 23

Hexosaminidase A

Question 24

“Cherry red”

spots in the eyes

Progressive neurodegenerative disorder
Developmental delay
Onion skin appearance on lysosomes
Hyperacusis

Answer 24

Tay sachs