Human genetics (II)

Question 1

component of lactose, which is not
required in normal human development but can be used as energy source.

Answer 1

Galactose

Question 2

condition characterized by accumulation by galactose in the blood

Answer 2

Galactosemia

Question 3

Symptoms include enlargement of the liver, slow growth, muscle weakness, cerebral palsy, seizures and mental retardation

Answer 3

Galactosemia

Question 4

____ individuals (gg) are unable to metabolize galactose because of deficiency in ___, resulting in the accumulation of galactose in the blood.

Answer 4

Homozygous recessive;
Gal-1-P uridyl transferase

Question 5

An inborn error of metabolism that renders an individual unable to hydroxylate phenylalanine to tyrosine

Answer 5

Phenylketonuria (PKU)

Question 6

Phenylalanine is converted into phenylpyruvic acid, which may inhibit the conversion of ___

Answer 6

tryptophan into serotonin.

Question 7

Four Basic Phenotypes of PKU:

Answer 7

PKU with profound mental retardation
Moderate PKU
Mild PKU
Simply excreting excess amino acid in urine

Question 8

is a hereditary abnormality that is due to errors on melanin synthesis

Answer 8

Albinism

Question 9

It is characterized by congenital reduction or absence of melanin pigment due to errors in the production of melanin from tyrosine

Answer 9

Albinism

Question 10

In order to detect early these inborn errors abnormalities and to implement measures to
address the health effects of these abnormalities, __ can be employed

Answer 10

newborn screening

Question 11

comprehensive policy or nation system for ensuring Newborn Screening.

Answer 11

RA 9288 (Newborn Screening Act)

Question 12

simple procedure to detect congenital metabolic disorder that may lead to mental retardation or death

Answer 12

newborn screening

Question 13

some of the disorders that can be detected using newborn screening: (4)

Answer 13

Congenital Hypothyroidism (CH).;
Galactosemia (GAL)
Phenylketonuria (PKU)
Glucose-6-Phosphate Dehydrogenase deficiency (G6PDeF)

Question 14

the body lacks the enzyme G6PD, resulting to haemolytic anemia.

Answer 14

Glucose-6-Phosphate Dehydrogenase deficiency (G6PDeF)

Question 15

Protein Alterations Due to Mutations (2)

Answer 15

Cystic Fibrosis
Sickle Cell Disease

Question 16

Cystic fibrosis is Caused by mutation, of a gene called

Answer 16

CFTR (cystic fibrosis transmembrane conductance regulator).

Question 17

This gene controls the flow of salt and fluids in and out of the cells.

Answer 17

CFTR (cystic fibrosis transmembrane conductance regulator).

Question 18

Symptoms: frequent lung infection, trouble with bowel movements, trouble breathing, infertility, especially in men, skin that tastes very salty

Answer 18

Cystic Fibrosis

Question 19

Group of disorders that affect hemoglobin

Answer 19

Sickle Cell Disease

Question 20

Features: low number of RBC (anemia), repeated infections, and periodic episodes of pain

Answer 20

Sickle Cell Disease

Question 21

– in heterozygous condition may have no effect but may be expressed when mating occurs between carriers

Answer 21

Recessive lethal

Question 22

examples of behavior that are found to be heritable. (5)

Answer 22

 Schizophrenia
 Eating Disorders
 Drug Addiction
 Mood Disorders
 Intelligence

Question 23

Characterized by cleavage of personality, and loss of ability to organize thoughts and perception.

Answer 23

Schizophrenia

Question 24

Onset on the 3rd decade of life; Has delusions and hallucinations

Answer 24

Schizophrenia

Question 25

Schizophrenia occurrence: __of the world’s populations; ___ y/o males ___ y/o females

Answer 25

1% 17-27; 20-37;

Question 26

perceives self as obese and starves intentionally; death risk of 15 to 21%

Answer 26

Anorexia nervosa

Question 27

characterized by eating huge amounts to be followed by vigorous and vomiting in order to maintain weight.

Answer 27

Bulimia

Question 28

males see themselves as too small and takes amino acid supplements to have masculine physique.

Answer 28

Muscle dysmorphia or bigorexia

Question 29

High heritability (40-60%); Changes in the limbic system

Answer 29

Drug addiction

Question 30

characterized by compulsive behavior of seeking and taking a drug despite of its known adverse effects

Answer 30

Drug addiction

Question 31

Mood disorders (2)

Answer 31

- Major depressive disorders (MDD): - Bipolar effective disorders or manicdepression:

Question 32

more common in women; chronic depression interspersed with acute episodes

Answer 32

Major depressive disorders (MDD):

Question 33

is likely due to deficiency in neurotransmitters serotonin or norepinephrine.

Answer 33

Major depressive disorders (MDD):

Question 34

weeks or months of depression alternate w/ periods of mania.

Answer 34

Bipolar effective disorders or manicdepression:

Question 35

gene location involved in Mood disorders

Answer 35

genes involved are located on chromosomes 4, 10, 18 and 22 and mitochondrial DNA.

Question 36

foundation of rational behavior; not a well-defined characteristic

Answer 36

Intelligence

Question 37

as the best and most usable measure of intelligence

Answer 37

Intelligence Quotient (IQ) ratings

Question 38

is a candidate gene for intelligence

Answer 38

Neural cellular adhesion molecule (N-CAM)

Question 39

which chromosome contains intelligence related genes.

Answer 39

Chromosome 4

Question 40

___ hypothesis was that I.Q. is largely hereditary. It was supported by ___ in 1971.

Answer 40

Jensen’s; Hernstein

Question 41

I.Q. is __ hereditary, and the remaining __ is due to the influence of the environment

Answer 41

80%; 20%

Question 42

is a series of tests that measure verbal fluency, mathematical reasoning, memory and spatial visualization ability.

Answer 42

IQ test

Question 43

more alcoholics are ___

Answer 43

color blind

Question 44

is an X-linked recessive trait.

Answer 44

Alcoholism

Question 45

In a study on mouse, ____ are found in the brain of alcoholic mice and absent in would be non-drinkers

Answer 45

phenolic compounds

Question 46

scientists found that alcohol dependence might be associated with up to ___ in different regions of the chromosome.

Answer 46

51 genes

Question 47

Aside from biological factors, others contribute to alcohol dependence such as (3)

Answer 47

environmental, social, and psychological factors

Question 48

A behavioral disorder that can be strongly inherited

Answer 48

Criminality

Question 49

Result of studies showed that the criminal tendency of identical twins have very strong similarities __, while it is only about __ for the fraternal twins.

Answer 49

(70%); 28%

Question 50

is a mental health condition that causes extreme shifts in mood, energy, and behavior

Answer 50

Bipolar disorder