chapter 6 genetic and developmental disorders and module 1 study guide Flashcards
congenital
present at birth
congenital malformation
structural defects attributable to errors in fetal development
phenotype
physical and biological traits or attributes of individual that are outwardly apparents
chromatid
2 identical linear chromosome units, make up the x-shape chromosome
-separate during meiosis
chromosomes
23 pair
22 autosomes
1 sex chromosome
alleles
several forms of one gene
2 for each gene, one from each parent
recessive trait
apparent only if both alleles for that trait are recessive.
DNa mutation
permanent change in DNA structure
genetic mutations 2 types
change reading frame
do not change reading frame
anueploidy
abnormal number of chromosomes
monosomy
missing a chromosome
polysomy
too many chromosomes
translocation on chromosome
exchange of pieces of DNA between nonhomologous chromosomes.
inversion on chromosome
removal and end-for-end reinsertion of sections of chromosome
deletion
loss of chromosomal material
duplication
extra copies of portions of DNA
mendelian single gene disorders
mutations in single gene
classified according to location of defective gene and the move of transmission .
(autosomal or sex)
(dominant or recessive)
autosomal dominant mutation pattern
gene sufficient to cause disorder despite normal allele for same gene.
predictable pattern:
males and females equally effected
usually have an affected parent
unaffected do not transmit disease
affected individual + unaffected = 1/2 change of inheritance
2 people each with one copy of defective gene = 3/4 change inheritance
autosomal recessive mutation pattern
occur only when both alleles are mutated
predictable pattern:
males and females equally effected
most cases disease not apparent in parents
unaffected may transmit disease to offspring
2 carriers = 1/4 change of producing affected offspring and 2/4 change producing carrier.
sex-linked (x-linked) mutation pattern
mutation of sex chromosome, usually X
nearly all are recessive
predictable pattern:
males usually affected
affected fathers transmit defective gene to only daughters
unaffected males do not carry defective gene
carrier female has 1/2 chance of producing affected son and 1/2 chance of producing carrier daughter.
Nonmendelian single gene disorders
caused by expanded triplet repeat mutations
attributable to mitochondrial DNA mutations
disorders associated with genomic imprinting
gene therapy
treatment of genetic disease by replacing defective gene with normal, healthy gene.
electrolytes with high concentration intracellular
potassium
magnesium
phosphate
proteins
electrolytes with high extracellular concentration
sodium
chloride
bicarbonate
calcium
with age total body water percentage
decreases
water moves across cell membranes according to
osmotic gradients
serum level and total body level different
low serum level of electrolyte could be associated with normal total body level of binding of electrolytes to proteins or organic ions occur.
mitochondrial gene mutations
only transmitted by mother
usually affect tissues with high ATP use
relationship between serum calcium and serum phosphate is
opposing
when phosphate is low, calcium is high
when phosphate is high, calcium is low
hyperkalemia causes resting membrane potential to
be hypopolarized decreases the duration and rate of cardiac cell action potentials.
chronic renal failure and hyperkalemia
aldosterone excretes K+ by colon
shift of K+ into cells helps to normalize resting potential
reduced thirst response when body fluid osmolality decreases affects
geriatric
normal ranges of serum electrolytes are wider in
neonates
at high risk for increased insensible water excretion is
neonates
limited ability to concentrate urine or dilute it is
neonates
decreased skin turgor is not a reliable sign of dehydration with
geriatrics
assessment of jugular venous distention should not be used with
neonates
age group at increased risk for hypocalcemia
neonates
nondisjunction
failure of the normal process of separation and migration of chromosomes during cell division
3 major processes involved in preservation and transmission of genetic information
replication
transcription
translation
blood vessel endothelium is what type of tissue
epithelial
most common type of genetic isorder
multifactoral/polygenic
Down syndrome is what type of disorder
autosomal chromosome
fragile x syndrome is characterized by
repeating sequences of three nucleotides
anticipation nonmendelian single gene disorder
TORCH comples
are able to cross the placenta and infect fetus
teratogenic potential of what infection begins before conception
rubella
huntington
autosomal dominant
neurofibromatosis
autosomal dominant
polycystic kidney disease
autosomal dominant
familial polyposis coli
autosomal dominant
von willebrand
autosomal dominant
marfan
autosomal dominant
osteogenesis imperfecta
autosomal dominant
familial hypercholesterolemia
autosomal dominant
cystic fibrosis
autosomal recessive
oculocutaneous albinism
autosomal recessive
phenylketonuria
autosomal recessive
alpha 1 antitrypsin deficiency
autosomal recessive
sickle cell anemia
autosomal recessive
thalassemia
autosomal recessive
dechenne muscular dystrophy
x-linked recessive
hemophilias a and b
x-linked recessive
glucose 6-phosphate dehydrogenase deficience
x-linked recessive
diabetes insipidus
autosomal dominant
fragile X syndrome
sex-linked recessive
trisomy 21
autosomal chromosome
trisomy 18
autosomal chromosome
trisomy 13
autosomal chromosome
cri du chat syndrome
autosomal chromosome
klinefelter syndrome
sex chromosome
male with multiple x’s
turner syndrome
sex chromosome
one x and no y
