Genetic Disorder (Autosomal)

Question 1

It is a disease that is caused by an abnormality in an individual’s DNA

Answer 1

Genetic Disorder

Question 2

It carries genes that determine the somatic characteristics and do not have any influence on determining the sex of the individual.

Answer 2

Autosomes or Somatic Chromosomes

Question 3

A pattern of inheritance in which an affected individual has ONE COPY of a mutant gene and one normal gene on a pair of autosomal chromosomes .

Answer 3

Autosomal Dominant

Question 4

It has TWO COPIES of an abnormal gene that must be present in order for the disease or trait to develop.

Answer 4

Autosomal Recessive

Question 5

It has short limbs relative to the trunk, prominent forehead, low nasal root, redundant skin folds on arms and legs.

Answer 5

Achondroplasia

Question 6

What is the gene defect of Achondroplasia (Autosomal Dominant) ?

Answer 6

Fibroblast Growth Factor Receptor 3 (FGR3)

Question 7

It impaired uptake of LDL, elevated levels of LDL cholesterol, cardiovascular disease and stroke.

Answer 7

Hypercholesterolemia

Question 8

What is the gene defect of Hypercholesterolemia (Autosomal Dominant) ?

Answer 8

LDL Receptor

Question 9

Its malformation of the brain dysmorphophobia facial features, and mental retardation.

Answer 9

Holoproencephaly

Question 10

What is the gene defect of Holoproencephaly (Autosomal Dominant) ?

Answer 10

Sonic Hedgehog

Question 11

It has a disorder that is characterized by progressive motor, cognitive, and psychiatric abnormalities.

Chorea - no repetitive involuntary
Jerks - is observed in 90% of patients

Answer 11

Huntington Disease

Question 12

What is the gene defect of Huntington Disease (Autosomal Dominant) ?

Answer 12

Huntingtin (HD) | CAG repeat expansion within exon 1

Question 13

It has abnormalities of the skeleton, heart, pulmonary system, skin, and joints. A frequent cause of death is congestive heart failure.

Answer 13

Marfan Syndrome

Question 14

What is the gene defect of Marfan Syndrome (Autosomal Dominant) ?

Answer 14

Fibrilin-1 gene (FBN1)

Question 15

It has disorder shows anticipation of muscle weakness, cardiac arrhythmia, cataracts, and testicular atrophy in males. Children born in congenital form have a characteristic open triangle-shaped mouth.

Answer 15

Myotonic Dystrophy

Question 16

What is the gene defect of Myotonic Dystrophy (Autosomal Dominant) ?

Answer 16

A protein kinase gene (DMPK) | CTG repeats expansion in 3’ untranslated region of the gene

Question 17

It has disorder that is characterized by numerous benign tumors of the peripheral nervous system, but a minority of patients also show increased incidents of malignancy.

Answer 17

Neurofibromatosis I

Question 18

What is the gene defect of Neurofibromatosis I (Autosomal Dominant) ?

Answer 18

NF1 gene | Micro deletion at 17q 11.2

Question 19

It has null mutation to produce a milder form of the disease. Missense mutations that act in a dominant negative manner are often perinatal lethal. The disorders are associated with deformed, undermineralized bones that are subject to frequent fracture.

Answer 19

Osteogenesis Imperfecta

Question 20

What is the gene defect of Osteogenesis Imperfecta (Autosomal Dominant) ?

Answer 20

A1 or A2 chain of type I collagen

Question 21

It has heterozygous individuals who are predisposed to kidney disease. Multiple renal cysts, blood in urine, end-stage renal disease, and kidney failure.

Answer 21

Polycystic Kidney Disease

Question 22

What is the gene defect of Polycystic Kidney Disease (Autosomal Dominant) ?

Answer 22

Polycystic 1 (PKD1) or Polycystic 2 (PKD2) gene

Question 23

It has pancreatic insufficiency due to fibrotic lesions, obstruction of lungs due to thick mucus, and lung infection.

Answer 23

Cystic Fibrosis

Question 24

What is the gene defect of Cystic Fibrosis (Autosomal Recessive) ?

Answer 24

Cystic Fibrosis Transmembrane Regulator (CFTR) | Impaired chloride ion channel function

Question 25

It has lysosomal storage disease characterized by splenomegaly, hepatomegaly, and bone marrow infiltration.

Answer 25

Gaucher’s Disease

Question 26

What is the gene defect of Gaucher’s Disease (Autosomal Recessive) ?

Answer 26

B-Glucosidase

Question 27

It has absorption of dietary iron with accumulation of abnormal, pigmented, iron-protein aggregates in the visceral organ.

Answer 27

Hemochromatosis

Question 28

What is the gene defect of Hemochromatosis (Autosomal Recessive) ?

Answer 28

HFE gene | C282Y mutation

Question 29

It has mental retardation, if untreated, possibly due to inhibition of myelination and disruption of neurotransmitter synthesis. Detectable by newborn screening and treatable.

Answer 29

Phenylketonuria

Question 30

What is the gene defect of Phenylketonuria (Autosomal Recessive) ?

Answer 30

Phenylalanine Hydroxylase (PAH)

Question 31

It has hypotonia, spasticity, seizures, blindness, death by age 2. An early indication is a cherry red spot on the retina.

Answer 31

Tay-Sachs Disease

Question 32

What does the gene detect of Tay-Sachs Disease (Autosomal Recessive) ?

Answer 32

B-Hexosaminidase A isoenzyme (HEXA)

Question 33

It has acute photosensitivity, premature skin aging, premalignant actinic keratoses, and benign malignant neoplasms of the skin.

Answer 33

Xeroderma Pigmentosum

Question 34

What is the gene defect of Xeroderma Pigmentosum (Autosomal Recessive) ?

Answer 34

Nucleotide Excision Repair (Locus Heterogeneity)

Question 35

List some disorder/disease that are commonly AUTOSOMAL DOMINANT.

Answer 35

• Achondroplasia
• Hypercholesterolemia
• Holoproencephaly
• Huntington’s Disease
• Marfan Syndrome
• Myotonic Dystrophy
• Neurofibromatosis I
• Osteogenesis Imperfecta
• Polycystic Kidney Disease

Question 36

List some disorder/disease that are commonly AUTOSOMAL RECESSIVE.

Answer 36

• Cystic Fibrosis
• Gaucher’s Disease
• Hemochromatosis
• Phenylketonuria
• Tay Sachs Disease
• Xeroderma Pigmentosum