chapter fourteen part two Flashcards
types of dominance variations
- complete dominance
- codominance
- incomplete dominance
complete dominance
one allele is completely dominant over another in a heterozygous pair
codominance
both alleles equally affect phenotype in the heterozygote
- AB/MN bloodtypes
incomplete dominance
phenotype of the heterozygote appears intermediate
- coloring (redxwhite=pink)
- cross of F1 yields 1 red: 2 pink: 1 white
ABO blood group example
- multiple (3) alleles
- each allele codes for enzyme that may add specific carbohydrates to red blood cells
pleiotropy
1 gene has several phenotypic effects
- responsible for multiple symtpoms
epistasis
alleles of 1 gene mask allele expression of a totally separate gene
- ex. labs - mutant E would disallow expression of gene B by not dipositing brown pigment in hair
polygenic inheritence
one character, 2+ genes affect and control it
- height, intelligence, skin color, hair color
nature vs. nurture impact on phenotype
- nutrition affects heigh, sun tanning affects skin color
- norm of reaction - phenotypic range depends on environment
- ex. soil pH and hydrangea flowers color, fanwort leaves
family pedigree
a diagram showing occurrence of heritable characters over generations
- studies inheritance patterns of human triats
genetic counseling
helps parents-to-be to understand likelihood of traits showing up in their children
ex. of recessively inherited traits
- albinism
- color-blindness (red-green, x-linked)
- cystic fibrosis
- Duchene muscular dystrophy (x-linked)
- hemophilia (x-linked)
- Tay-Sachs
cystic fibrosis
chloride ion channels that transport ions between cells/ECF defective
- causes uptake of water
- thicker/stickier mucus
Tay-Sachs disease
brain cells can’t metabolize certain lipids because certain enzymes don’t work properly
carriers
heterozygotes who are phenotypically normal but who can transmit a recessive allele to their offspring
ex. of dominantly inherited disorders
- achondroplastic dwarfism
- Huntington’s disease
achondroplasia dwarfism
Aa - dwarf, rare
AA - extremely rare, often fatal
aa - normal
Huntington’s disease
Hh - Huntington’s rare, fatal
HH - extremely rare, fatal
hh - normal
recessive disorders with codominance
sickle cell anemia
- ss - sickle-cell anemia
- Ss - sickle-cell treat
- SS normal
types of fetal testing
- amniocentesis
- chorionic villus sampling
- ultrasound
amniocentesis
- karyotype
- done as early as 14-16th weeks of gestation (2nd trimester)
- needle inserted into uterus to collect amniotic fluid sample
chorionic villus sampling
- tube inserted into cervix and sample of placenta taken
- results in 1 day
- can be done as early as 8-10th weeks of gestation (1st trimester)
ultrasound/fetoscopy
noninvasive way to check fetus
newborn screening
biochemical tests on blood from a baby’s heel
- PKU and others
PKU (phenylketonuria)
causes amino acid phenylalanine to build up
- tested few days after birth
how many disease-causing genes have tests available as of a few years ago?
2000