M4 Flashcards
The genes that one inherits
GENOTYPE
One’s observable or measurable
characteristics
PHENOTYPE
Refers to when the ovum is
fertilized by sperm.
CONCEPTION
Contains the biochemical needed
for the development from a
single cell into a recognizable
human being.
ZYGOTE
Within few hours, sperm cell begins to disintegrate, releasing its
GENETIC MATERIAL
Contains 46 chromosomes.
ZYGOTE
-Elongated threadlike bodies
-Consist thousands of genes
CHROMOSOMES
-The basic unit of hereditary
-Contains stretches of DNA
GENES
A complex double-helix molecule
that resembles a twisted ladder
and provides the chemical basis
for development.
DEOXYRIBONUCLEIC ACID
Unique feature: can duplicate
itself that makes the zygote to
develop into a complete human
being.
DEOXYRIBONUCLEIC ACID
It is the complete sequence of
genes in the human body.
HUMAN GENOME
It is the process of cell division where a single parent cell divides to make a two new daughter cells.
MITOSIS
It is a process of duplicating and
replicating cells.
MITOSIS
It continues throughout life,
generating ne cells that enable
growth and replacing old ones that are damaged.
MITOSIS
MITOSIS PROCESS; WHAT STAGE? Original cell contains 4 chromosomes.
1
MITOSIS PROCESS; WHAT STAGE? Each chromosomes splits lengthwise producing a duplicate.
2
MITOSIS PROCESS; WHAT STAGE? The duplicated sets of chromosomes move to opposite
ends of the original cells and
begins to divide
3
MITOSIS PROCESS; WHAT STAGE? The cell completes its division
producing two new cells that have identical sets of chromosomes
4
The process by which a germ cell
divides, producing two gametes
(sperm or ovum)
MEIOSIS
the one who produce gametes
GERM CELLS
duplicated chromosomes cross
and break at one or more points
along their length, exchanging
segments of genetic material.
CROSSING-OVER
This creates new and unique
hereditary combinations.
CROSSING-OVER
Determine their stage. Each germ cell’s original chromosomes duplicates itself, and the duplicate
remains attached.
1
Determine their stage. Crossing-over takes place among adjacent
chromosomes, creating hereditary combinations.
2
Determine their stage. The original cell divides to form 2 new cells. Each cells has 23 chromosomes (some of it have been altered by crossing-over).
3
Determine their stage. Each chromosome and its duplicate now split and segregate into separate gametes. Each gametes
has half the chromosomes of its original cell.
4
Is the reason why we are
genetically unique.
MEIOSIS
The principle that each pair of
chromosomes segregates independently of all other
chromosome pairs during meiosis.
INDEPENDENT ASSORTMENT
One egg cell fertilized by two
sperm cells.
MOZYGOTIC TWINS
Developed from single zygote and
have identical genes.
MOZYGOTIC TWINS
Identical twins
MOZYGOTIC TWINS
Two ovum is being fertilized by
two sperm cells.
DIZYGOTIC TWINS
Fraternal twins
DIZYGOTIC TWINS
Also known as chromosomal portraits
KARYOTYPE
Also known as chromosomal portraits
KARYOTYPE
This reveal that 22 of the 23 pairs of human chromosomes (autosomes) are similar in males and females
KARYOTYPE
It is the 23rd pair of chromosomes
SEX CHROMOSOMES
The sex is determined by 23rd
chromosomes.
SEX CHROMOSOMES
It is transferred from a parent to
offspring and is held to determine
some characteristic of the offspring.
GENES
might “turn on” the genes
responsible for the growth spurt
we experience as adolescents and
then shut these growth genes
down in adulthood.
REGULATORY GENES
Sometimes human characteristics
are determined by the actions of a single gene.
SINGLE-GENE INHERITANCE
PATTERNS
Sometimes the characteristics are
determined by the actions of
many genes working together: known as ?
polygenic inheritance.
There are four main patterns of
genetic expression:
- Simple dominant–recessive
inheritance - Codominance,
- Sex-linked inheritance,
- Polygenic or multiple-gene
inheritance.
are influenced by only one pair of genes (alleles): one from the mother, one from the father.
SIMPLE DOMINANT -
RECESSIVE INHERITANCE
He is a 19th century monk.
He contributed to our knowledge of single gene-pair inheritance by
cross-breeding different strains of peas.
GREGOR MENDEL
He called some characteristics
‘dominant’ because they appeared more often in later
generations than their opposite
traits which he called ‘recessive’
traits.
GREGOR MENDEL
His major discovery was very
predictable to the way the two
alternative characteristics appeared in the offspring of cross- breeding.
GREGOR MENDEL
People whose genotype for an
attribute consists of two alleles of
the same kind
HOMOZYGOUS
People inherited alternative
forms of the allele
HETEROZYGOUS
It is a graphic representation of
parents’ alleles and their possible
combinations to form unique
inheritable traits.
PUNNETTE SQUARE
It is a condition that causes
gradual detoriation of nervous
system leading to a progressive
decline in physical and mental
abilities and ultimately to death.
HUNTINGTON’S DISEASE
The disease normally appears
much late, usually after 40.
HUNTINGTON’S DISEASE
It refers to the inheritance in which two versions of the same gene are expressed separately to produce
different traits in an individual.
CODOMINANCE
It refers to the characteristics that are influenced by genes carried on the sex chromosomes.
SEX-LINKED INHERITANCE
It refers to the most important
human characteristics which are
influenced by many pairs of alleles.
POLYGENIC INHERITANCE
Refers to those that are present at birth, although many of these
conditions are not detectable when the child is born.
CONGENITAL DEFECTS
One of the resulting gametes may
have too many chromosomes and the others are too few.
CHROMOSOMAL
ABNORMALITIES
It is an abnormalities involving the
23rd pair of the chromosomes.
ABNORMALITIES OF THE SEX
CHROMOSOMES
Occasionally makes are born with an extra X or Y chromosomes; females may survive if they inherit a single X chromosome or even 3 (XXX), 4
(XXXX), or 5 (XXXXX).
ABNORMALITIES OF THE SEX
CHROMOSOMES
4 COMMON SEXCHROMOSOMAL
ABNORMALITIES
FEMALE ABNORMALITIES
1. Turner’s syndrome (XO)
2. Poly – X or Superfemale
syndrome (XXX,XXXX, or
XXXXX)
MALE ABNORMALITIES
1. Klinefelter’s syndrome (XXY or
XXXY)
2. Supermale syndrome (XYY, XYYY,
or XYYY)
Phenotypically female but small
in stature. Normal sexual
development lacking at
puberty. Turner females can
assume more “womanly”
appearance by taking the
female hormone estrogen.
Turner’s syndrome (XO)
Phenotypically female and
normal in appearance.
Poly – X or Superfemale
syndrome (XXX,XXXX, or
XXXXX)
Phenotypically male with the
emergence of some female
secondary sex characteristics at
puberty. Significantly taller than
normal XY males.
Klinefelter’s syndrome (XXY or
XXXY)
Phenotypically male who are
taller than normal male, have
large teeth and often develop
severe acne during
adolescence.
Supermale syndrome (XYY, XYYY,
or XYYY)
Also known as trisomy-21
It is the most frequent autosomal abnormalities
It is a condition in which the child inherits all or a part of an extra 21st chromosome.
DOWN SYNDROME
These abnormalities will not appear unless both parents carry the harmful allele and the child inherits this gene from each parent.
GENETIC ABNORMALITIES
it is a changes in the chemical
structure of one or more genes
that produce a new phenotype
MUTATIONS
it is a changes in the chemical
structure of one or more genes
that produce a new phenotype
MUTATIONS
DESCRIPTION: Child lacks enzymes
that prevents mucus from obstruction the lungs and digestive tract.
DISEASE: Cystic Fibrosis (CF)
DESCRIPTION: Individual lacks a
hormone that would enable him or her to metabolize sugar properly.
DISEASE: Diabetes
DESCRIPTION: Sex-linked disorder that attacks the muscles and eventually produces such symptoms as slurred speech and loss of motor capabilities.
DISEASE: Duchenne-type muscular
dystrophy
DESCRIPTION: A sex-linked condition sometimes called “bleeder’s disease”. Child lacks a substance that causes the
blood to clot.
DISEASE: Hemophilia
DESCRIPTION: Child lacks enzyme to digest foods (including milk)
containing the amino acid
phenylalanine. Disease attacks
nervous system, producing
hyperactivity and severe mental
retardation.
DISEASE: Phenylketonuria (PKU)
DESCRIPTION: abnormal sickling of red blood cells causes inefficient distribution of oxygen, pain, swelling, organ damage, and susceptibility to respiratory diseases.
DISEASE: Sickle-cell anemia
DESCRIPTION: Causes degeneration of the central nervous system starting in
the first year. Victims usually die by age 4.
DISEASE: Tay-sachs disease
It refers to the prediction of both
chromosomal abnormalities and
genetic abnormalities.
GENETIC COUNSELING
It is a service that helps prospective to assess the likelihood that their
children will be free of hereditary
defects.
GENETIC COUNSELING
Are trained in genetics, the
interpretation of family histories
and counseling procedures.
GENETIC COUNSELORS
Also called as sonography
It is the easiest and most commonly used method of PREDICTNG HEREDITARY
DISORDERS
ULTRASOUND
The use of sound waves to scan the womb and create a visual image of the fetus on a monitor screen
ULTRA SOUNDS
a needle is inserted through the abdominal wall into the uterus. Fluid is withdrawn
and fetal cells are cultured, a process that takes about 3 weeks.
AMNIOCENTESIS
It is used to detect chromosome
abnormalities such as Down
syndrome and to determine through DNA analysis whether the genes for a single gene-pair disorders are present.
AMNIOCENTESIS
It refers to the alternative
procedure which collects tissue for the same tests as amniocentesis.
It can be performed during 8
th or 9th week of pregnancy.
CHRONIC VILLUS SAMPLING (CVS)
Refers to the scientific study of how genotype interacts with
environment to determine
behavioral attributes such as
intelligence, personality, and mental health.
BEHAVIORAL GENETICS
They acknowledge that the long-term effects of one’s genotype on
behavioral characteristics
(intelligence, personality, mental
health) also depend on one’s
environment.
BEHAVIORAL GENETICS
The amount of variability in a trait
that is attributable to hereditary
factors.
HERITABILITY
It is a method of studying genetic
influences by determining whether traits can be bred in animals through selective breeding.
SELECTIVE BREEDING
Refers to the extent to which two
individuals have genes in common.
KINSHIP
Refers to the study in which sets of twins that differ in zygosity (kinship) are compared to determine the
heritability of an attribute.
TWIN DESIGN
Refers to the study in which adoptees are compared with their biological relatives and their adoptive relatives to estimate the heritability of an attribute or attributes.
ADOPTION DESIGN
refers to an environmental influence that people living together do not share that should make these individuals different from one another.
NON-SHARED ENVIRONMENTAL
INFLUENCES (NSE)
refers to an environmental influence that people living together share that should make these individuals similar to one another.
SHARED ENVIRONMENTAL
INFLUENCES (SE)
refers to the percentage of cases in which a particular attribute is
present for one member of a twin
pair if it is present for the other.
CONCORDANCE RATES
refers to the numerical estimate,
ranging from .00 – 1.00 of the amount of variation in an attribute that is due to hereditary factors.
HERITABILITY COEFFICIENTS
are shy, anxious around others, and tend to withdraw from social
situations
INTROVERTS
are highly sociable and enjoys being with others.
EXTROVERTS
Refers to a measure of the extent to which an individual recognizes the needs of others and is concerned about their welfare.
EMPHATIC CONCERN
it is a model of family influences in
which parent and child are believed to influence each other reciprocally.
TRANSACTIONAL MODEL
A serious form of mental illness characterized by
disturbances in logical thinking,
emotional expression, and
interpersonal behavior.
Schizophrenia
A psychological disorder characterized by
extreme fluctuations
in mood.
Bipolar disorder
An irrational pattern
of thinking or behavior that a
person may use to contend with stress or to avoid anxiety.
Neurotic disorder
Implies that genes limit development to certain outcomes
that are difficult for the environment to alter.
Canalization Principle
States that hereditary sets a
range of developmental
potentials and the environment
influences where in that range the
individual will fall.
Range Of Reaction Principle
The notion that the rearing environments that biological
parents provide are influenced by the parents’ own genes, and hence are correlated with the child’s own genotype
Passive Genotype Or Environmental Correlations
The notion that our heritable attributes affect others’ behavior toward us and thus influence the social environment in which
development takes place.
Evocative Genotype Or
Environmental Correlations
the notion that our genotypes affect the types of environments that we prefer and seek
out.
Active Genotype Or Environmental
Correlations
