MI Unit 2

single gene

can be inherited in recognizable patterns: autosomal dominant, autosomal recessive, sex-linked.

Genetic testing looks at genotype to determine if someone this risk, will develop it, or is a carrier

multifactorial

caused by combination of environmental factors and mutations in multiple genes. many of the most common chronic illnesses are in this category.

chromosomal

when there are missing or extra copies of genes, breaks in code, deletions, or rejoining of chromosomes. Karyotypes are important in diagnosing these disorders.

mitochondrial

the organelles in cells that convert energy and contain DNa. A rare type of genetic disorder caused by mutations in non chromosomal DNA passed solely from mother to child.

sex linked

what type of genetic disorder is duchenne muscular dystrophy?

autosomal recessive

what type of genetic disorder is cystic fibrosis?

autosomal dominant

what type of genetic disorder is huntington’s disease

chromosomal

what type of genetic disorder is down syndrome?

mitochondrial

what type of genetic disorder is leber hereditary optic neuropathy?

multifactorial

what type of genetic disorder is alzheimer’s disease?

denaturation, annealing, DNA synthesis

three steps of PCR

denaturation

what process of PCR is being described?

DNA strands of samples are separated and primers are added to solution

annealing

what process of PCR is being described?

50C, primers attaches to start sequence of forward strand on template DNA (3’) and on start of reverse strand (5’)

DNA synthesis

heat reaction to extend/COPY new double stranded areas where primer and template DNA has annealed using TAQ polymerase, adding complementary bases towards 5’ sides

thermal cycler

which instrument is used to heat up solutions in PCR?

first

this is the ___ (first, second, etc.) step of testing DNA: target DNA is collected and cut through cell lysis to isolate the target gene

second

this is the ___ (first, second, etc.) step of testing DNA: amplify specific region of target gene by adding primers and PCR sample

third

this is the ___ (first, second, etc.) step of testing DNA: digest PCR sample with restriction enzyme (in this case HaeIII)

fourth

this is the ___ (first, second, etc.) step of testing DNA: separate DNA fragments with Electrophoresis to identify genotype

fifth

this is the ___ (first, second, etc.) step of testing DNA: determine phenotype of gene

screening, diagnostic

a ______ test determines the overall risk of a certain disorder, a _______ test provides more definitive information as whether or not a child will be born with a particular disorder or condition

first and second trimesters

hcG testing is done in which trimester?

first trimester

PAPP-A screening is done in which trimester?

second trimester

AFP testing is done in which trimester?

second trimester

DIA testing is done in which trimester?

second trimester

uE3 is done in which trimester?

first trimester screening and quad screening

what are the two types of maternal serum screening?

first trimester

10-14 weeks of gestation

second trimester

14-22 weeks of gestation

first trimester screening

this maternal serum screening test checks blood for hCG and PAPP-A levels

quad screening

this maternal serum screening test checks blood for hCG, AFP, DIA, and uE3 levels

NT ultrasound and anatomy ultrasound

what are the two types of ultrasound screenings?

NT ultrasound

creates an image that will be read for nasal bone size and fluid in the back of the neck. Checked to see if both are in the normal range. It indicates the risk of chromosomal abnormalities.

first trimester

in which trimester can you get NT ultrasound screening?

anatomy ultrasound

(aka: fetal, obstetric) checks anatomy of baby, determines pregnancy, gestational age of baby, determines fetal heartbeat, determines baby’s sex, done throughout the entire pregnancy

cell-free fetal DNA analysis

what is the one kind of noninvasive prenatal screening?

cell-free fetal DNA analysis

DNA gets pulled from placenta or umbilical cord nad goes into mother’s bloodstream for testing

chorionic villi sampling and amniocentesis

what are the two kinds of genetic diagnostic testing?

amniocentesis

amniotic fluid is collected by doctor sticking needle into patient’s stomach and uterus, guided by ultrasound then tested.

second trimester

when can a mother get amniocentesis screening?

first trimester

when can a mother get chorionic villi sampling?

chorionic villi sampling

a particular part of the placenta is collected through a needle into the cervix or abdomen, into the uterus. Then cells are tested

karyotype

this is a picture of the chromosomes from one cell and are used to assess genetic disorders from a chromosomal standpoint

pedigrees

this is a model of the family genetic history of a certain gene, and shows genotypes

gene therapy

modifying one or more disease-causing genes

insertion

what general category of gene therapy is described?

a functional gene is given to patient so they can make a functional protein and override the defective gene

disabling

what general category of gene therapy is described?

dysfunctional gene is stopped, preventing dysfunctional protein from being made

repairing

what general category of gene therapy is described?

dysfunctional gene is put back together to become functional

plasmid

DNA, no max gene size, no cell specificity, no immune response, does not integrate into host cell genome, circular shape

liposome

DNA, no max gene size, no cell specificity, no immune response, does not integrate into host cell genome, a spherical vesicle surrounded by a lipid bilayer

herpes virus

DNA, max 20,000 bp, specific to nervous system cells, can trigger immune response, does not integrate into host cell genome

adeno-associated virus

DNA, max 5,000 bp, various cell specificity, no immune response, integrates into host cell’s genome

adenovirus

DNA, max of 7,500 bp, cell specificity to various cells, can trigger immune response, does not integrate into host cell genome

retrovirus

RNA, max 8,000 bp, various cell specificity, can trigger immune response, integrates into host cell genome

lentivirus

RNA, max of 8,500 bp, cell specificity to various cells, does not trigger immune response, integrates into host cell’s genome

bacteria

CRISPR models the immune system of ________ and can be used in gene therapy

IVF

the medical process in which an egg is fertilized with sperm outside the body and then implanted into the uterus for development

PGT

occurs after egg as been fertilized in IVF, before it is implanted into uterus. Evaluates the likelihood of the embryo inheriting genetic diseases or chance of chromosomal abnormalities.

PGT-A

responsible for identifying if there are any chromosomal abnormalities, whether the embryo has more or less than 46 chromosomes

PGT-M

tests for any single-gene diseases that the child could have if carried to term

PGT-SR

tests for any issues concerning chromosomal structure