Prep
chapter 3 : - correct answer ✔✔GENETICS, CONCEPTION, FETAL DEVELOPMENT,
REPRODUCTIVE TECHNOLOGY
what is the difference between genetics and genomics ? - correct answer ✔✔according to the
who:
genetics "scrutinizes the functioning and composition of the single gene."
genomics "addresses all genes and their interrelationships in order to identify their combined
influence on the growth and development of the organism"
genetic vocab - correct answer ✔✔autosomes :
refer to any pair of chromosomes that are NOT sex chromosomes
genes:
contain the coded information that makes a person unique
DNA = contains hereditary material in the form of "threads" of chromosomes
each chromosome contains genes
the word "somatic" means body, and the word " homologous means matched
genetic vocab note - correct answer ✔✔3000o genes in our dna
22 pairs
male xy
female xx
phenotype is what we see
,dominant nd recessive inheritance - correct answer ✔✔- when a dominant and recessive gene
are paired, the dominant trait will be present
- if both genes are recessive, the recessive trait will be present.
- genetic diseases are often related to a defective recessive gene.
- genetic defects are present at birth
- three types of inheritance
three types of inheritance - correct answer ✔✔
autosomal dominant inheritance - correct answer ✔✔-only need one copy of a variant allele for
phenotypic expression
- 50 percent likelihood that offspring will be affected
vertical pattern of inheritance means it passes generation to generation.
Male and Female equally affected
ex. huntingtons
punnet squares autosomal dominant - correct answer ✔✔A a
a Aa aa
a Aa aa
only need one copy of variant allele for phenotypic expression.
50 percent likelihood that offspring will be affected
autosomal recessive inheritance - correct answer ✔✔both genes of the pair hold the variant for
the disorder to be expressed
25 %lielihood horizontal pattern of inheritance ( mulitple sibling and not in earlier generations
,ex. cystic fibrosis
tay -sachs disease
Aa from one parent and Aa from the other
both parents must be carriers to have child affected by disease/ express recessive trait
X-linked recessive inheritance - correct answer ✔✔abnormal gene located on the x
chromosome.
ex. hemophilia : x - linked recessive disorder
fragile x syndrome : x - linked dominant disorder
always coming from mother and only boys will be affected
boys 50 percent chance they have it
common genetic diseases - correct answer ✔✔table 3-1 p.38-39
sickle cell anemia - correct answer ✔✔a genetic disorder in which erythrocytes take on an
abnormal curved or "sickle" shape most commonly affecting pppl of african descent
cystic fibrosis - correct answer ✔✔A genetic disorder that is present at birth and affects both
the respiratory and digestive systems.
recessive disorder most commonly affecting ppl of european ancestry.
associated with increase production of thick mucus that clogs bronchial tree and pancreatic
ducts
Tay-Sachs disease - correct answer ✔✔A human genetic disease caused by a recessive allele
that leads to the accumulation of certain lipids in the brain. Seizures, blindness, and
, degeneration of motor and mental performance usually become manifest a few months after
birth. Degeneration of nervous system. Among ppl with Jewish ancestry.
PKU (phenylketonuria) - correct answer ✔✔chrom 12 mutation leads to error in converting
phenylalanine to tyrosine; ClinMan: fail to meet dev milestones, microcephaly, progressive
neurological decline/MR, seizures, hyperactivity, LD, eczema. Diag: serum phenylalanine by 3
days old. Treatment: diet low in protein and starches, gene therapy, phenylalanine lowering
agents. Blood test, if goes untreated severe physical and mental disabilities and can be
prevented by changing infants diet. State requirement.
Hemophilia - correct answer ✔✔A hereditary disease where blood does not coagulate to stop
bleeding. x- linked disorder. lack of factor v111 clotting factor which impairs clotting. parial
thromboplastic time increased. Treatment : supplement missing factor
s/s - easy bruising, hematuria, hematomas, nosebleeds, gi bleeding , prolonged bleeding ,
oozing after teeth extractions
Huntington's disease - correct answer ✔✔A human genetic disease caused by a dominant
allele; characterized by uncontrollable body movements and degeneration of the nervous
system; usually fatal 10 to 20 years after the onset of symptoms. or 30 to 50
Duschenne Muscular Dystrophy - correct answer ✔✔X-linked disorder that results in
progressive weakness. Most common form. affects the muscles , leading to wasting that gets
worse over time , waddling and high creatine kinase , no treament - fatal by the age of 20.
couples at high risk for genetic disorders - correct answer ✔✔maternal age more than 35
a hx of previous pregnancy with a newborn with a genetic disorder
one or both partners have a genetic disorder
a family hx of a genentic disorder
if fetus is diagnosed with a genetic disorder, couples may elect to continue or terminate the
pregnancy
- Nursing actions :