application a + b ! Flashcards
what does medical genetics focus on?
this focuses on diagnosis & managment of the medical, psychological, & social aspects of diseases involving mutations or influence of genes
what is medical genetics?
discipline involving a range of health professionals
what is family focus of medical genetics?
related to both medical care/ management of the pateint & forward-looking consideration of future of future offspring
what are the three types of hereditary disease?
-mendelian conditions
-chromosomal conditions
-multifactorial conditions
what are mendelian conditions?
-caused by mutation of a SINGLE gene
-autosomal dominant/recessive, X-linked dominant/recessive, Y-linked, & mitochondrial
-can be inherited by one or both parents or may be a new mutation
chromosomal conditions
-caused by an extra chromosome, a missing chromosome, duplication or deletion of a chromosome segment, & certain structural rearrangements of chromosomes; trisomy 21
-dev. and phys abnormalities can result due to human sensitivity Gene Dosage
-conditions may involve the autosomes or the sex chromosomes
what are multifactorial conditions?
-influenced bu multiple genes & environmental factors (diabetes)
-increased likelihood referred to as “inherited susceptibility” which varies
-variation is due to differing mutant allele frequencies in different populations
what are some different types of genetic testing?
-molecular analysis
-biochemical analysis
-chromosome analysis
explain molecular analysis
-tests DNA or RNA & is useful when there is suspicion of a specific mendelian condition
explain biochemical analysis
tests blood or tissues for absence of presence of certain proteins, as well as levels; also tests for variant proteins associated with the condition
explain chromosome analysis
tests for chromosomal causes of fetal or infant malformations, unexplained mental impairment or physical abnormalities at any age, & long-term infertility in adults
what does carrier testing do?
identifies individuals who are heterozygous for recessive conditions or have a chromosomal abnormality that could produce a condition in a future child
do carrier individuals have the genetic condition?
no
in some cases, carrier frequency is so high that testing is required as a public health effort, what is this the case for?
Tay-Sachs disease in Ashkenazi Jewish Populations
what is pre-symptomatic testing?
used for genetic conditions wiht a late age of onset, few diseases can be tested this way
by age 40, only about ____ of people
with the ________ ___________ mutant allele for ____________- disease WILL show the condition
50%; autosomal dominant; Huntington
what type of testing is mandated?
newborn testing
what is newborn testing?
mandated genetic tests that together require only a few drops of blood from a heel stick
what contains the list of genetic diseases recommended for testing?
Recommended Uniform Screening Panel (RUSP)
how many core hereditary conditions are there that nearly all states test for?
34
how many secondary conditions are there fpr each state to consider including alongside the core testing?
25
what is newborn genetic testing aiming to do?
-save lives
-reduce medical costs
-support the well-being of families
when a test is positive in newborn testing, what is followed?
immediate treatment
what is prenatal testing?
it is performed during pregnancy to detect a condition in a fetus including chromosomal abnormalities
