Human genetics (II) Flashcards
component of lactose, which is not
required in normal human development but can be used as energy source.
Galactose
condition characterized by accumulation by galactose in the blood
Galactosemia
Symptoms include enlargement of the liver, slow growth, muscle weakness, cerebral palsy, seizures and mental retardation
Galactosemia
____ individuals (gg) are unable to metabolize galactose because of deficiency in ___, resulting in the accumulation of galactose in the blood.
Homozygous recessive;
Gal-1-P uridyl transferase
An inborn error of metabolism that renders an individual unable to hydroxylate phenylalanine to tyrosine
Phenylketonuria (PKU)
Phenylalanine is converted into phenylpyruvic acid, which may inhibit the conversion of ___
tryptophan into serotonin.
Four Basic Phenotypes of PKU:
PKU with profound mental retardation
Moderate PKU
Mild PKU
Simply excreting excess amino acid in urine
is a hereditary abnormality that is due to errors on melanin synthesis
Albinism
It is characterized by congenital reduction or absence of melanin pigment due to errors in the production of melanin from tyrosine
Albinism
In order to detect early these inborn errors abnormalities and to implement measures to
address the health effects of these abnormalities, __ can be employed
newborn screening
comprehensive policy or nation system for ensuring Newborn Screening.
RA 9288 (Newborn Screening Act)
simple procedure to detect congenital metabolic disorder that may lead to mental retardation or death
newborn screening
some of the disorders that can be detected using newborn screening: (4)
Congenital Hypothyroidism (CH).;
Galactosemia (GAL)
Phenylketonuria (PKU)
Glucose-6-Phosphate Dehydrogenase deficiency (G6PDeF)
the body lacks the enzyme G6PD, resulting to haemolytic anemia.
Glucose-6-Phosphate Dehydrogenase deficiency (G6PDeF)
Protein Alterations Due to Mutations (2)
Cystic Fibrosis
Sickle Cell Disease
Cystic fibrosis is Caused by mutation, of a gene called
CFTR (cystic fibrosis transmembrane conductance regulator).
This gene controls the flow of salt and fluids in and out of the cells.
CFTR (cystic fibrosis transmembrane conductance regulator).
Symptoms: frequent lung infection, trouble with bowel movements, trouble breathing, infertility, especially in men, skin that tastes very salty
Cystic Fibrosis
Group of disorders that affect hemoglobin
Sickle Cell Disease
Features: low number of RBC (anemia), repeated infections, and periodic episodes of pain
Sickle Cell Disease
– in heterozygous condition may have no effect but may be expressed when mating occurs between carriers
Recessive lethal
examples of behavior that are found to be heritable. (5)
Schizophrenia
Eating Disorders
Drug Addiction
Mood Disorders
Intelligence
Characterized by cleavage of personality, and loss of ability to organize thoughts and perception.
Schizophrenia
Onset on the 3rd decade of life; Has delusions and hallucinations
Schizophrenia
Schizophrenia occurrence:
__of the world’s populations;
___ y/o males
___ y/o females
1%
17-27;
20-37;
perceives self as obese and starves intentionally; death risk of 15 to 21%
Anorexia nervosa
characterized by eating huge amounts to be followed by vigorous and vomiting in order to maintain weight.
Bulimia
males see themselves as too small and takes amino acid supplements to have masculine physique.
Muscle dysmorphia or bigorexia
High heritability (40-60%); Changes in the limbic system
Drug addiction
characterized by compulsive behavior of seeking and taking a drug despite of its known adverse effects
Drug addiction
Mood disorders (2)
- Major depressive disorders (MDD):
- Bipolar effective disorders or manicdepression:
more common in women; chronic depression interspersed with acute episodes
Major depressive disorders (MDD):
is likely due to deficiency in neurotransmitters serotonin or norepinephrine.
Major depressive disorders (MDD):
weeks or months of depression alternate w/ periods of mania.
Bipolar effective disorders or manicdepression:
gene location involved in Mood disorders
genes involved are located on chromosomes 4, 10, 18 and 22 and mitochondrial DNA.
foundation of rational behavior; not a well-defined characteristic
Intelligence
as the best and most usable measure of intelligence
Intelligence Quotient (IQ) ratings
is a candidate gene for intelligence
Neural cellular adhesion molecule (N-CAM)
which chromosome contains intelligence related genes.
Chromosome 4
___ hypothesis was that I.Q. is largely hereditary. It was supported by ___ in 1971.
Jensen’s; Hernstein
I.Q. is __ hereditary, and the remaining __ is due to the influence of the environment
80%; 20%
is a series of tests that measure verbal fluency, mathematical reasoning, memory and spatial visualization ability.
IQ test
more
alcoholics are ___
color blind
is an X-linked recessive trait.
Alcoholism
In a study on mouse, ____ are found in the brain of alcoholic mice and absent in would be non-drinkers
phenolic compounds
scientists found that alcohol dependence might be associated with up to ___ in different regions of the chromosome.
51 genes
Aside from biological factors, others contribute to alcohol dependence such as (3)
environmental, social, and psychological factors
A behavioral disorder that can be strongly inherited
Criminality
Result of studies showed that the criminal tendency of identical twins have very strong similarities __, while it is only about __ for the fraternal twins.
(70%); 28%
is a mental health condition that causes extreme shifts in mood, energy, and behavior
Bipolar disorder
