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Pathophysiology E.1*

Genetics and Genomics

Allele a specific function at a specific location on a chromosome
Genotype actual genetic information carried by the individual
Heterozygous having two different alleles aa corresponding points on a chromosome pair
Homozygous having two identical alleles at corresponding points on a chromosome pair
Karyotype visual representation of chromosomes arranged in order of size
mutation/mutagen a change in the genetic makeup (DNA) of a cell which will be inherited
Phenotype expression of genes, appearance of the individuals characteristics
Translocation abnormal placement of part of the chromosome
Teratogenic agents that cause damage during embryonic or fetal development
Singe-Gene Disorders classified by inheritance patterns - recessive, dominant, x-linked recessive Single gene controls a specific function- e.g. color blindness May have system effects - e.g. cystic fibrosis, Tay-sachs, phenylketonuria (PKU)
Autosomal Recessive Disorders Both parents must pass on the allele for this disorder -parents may be heterozygous and unaffected; termed carries (Cc) -parents may be homozygous and affected (cc) -Normal parent (CC)
Autosomal Recessive Disorder affect on children -male and female children affected equally -homozygous recessive child has the disorder (cc) -heterozygous child- no clinical signs of disease; child is a carrier (Cc)
What are examples of autosomal recessive disorders? Cystic fibrous, PKU, Tay-Sachs, Sickle cell anemia
Autosomal Dominant Disorders inheritance of one bad allele causes disorder; only one parents needs to carry allele -no carriers; either affected or unaffected-unaffected persons do not transmit disorder Hh-affected hh-normal HH-dont live long
Autosomal Dominant Disorders conditions some conditions become evident later in life -allele disorder may have been passed on to next generation before diagnosis of disease in parent -termed "delayed lethal" genotype
Examples of autosomal dominant disorders Adult polycystic kidney disease, huntington disease, familial hypercholedsterolemia, marfan syndrome
X-linked dominant disorder Rare! heterozygous males and females affected -reduced penetrance in females EX: fragile X syndrome -most common genetic cause of cognitive deficits -effects are variable and related to the extent of mutation of the allele
X-linked recessive disorder allele carried on the X chromosome -manifested in heterozygous males lacking the matching unaffected gene on the Y chromosome -heterozygous females are carriers -homozygous recessive females may be affected -inheritance seems to "skip generations"
X-linked recessive disorder examples duchenne muscular dystrophy and classic hemophilia
Multifactorial disorders are those involving a number of genes or genetic influences combined with environmental factors
examples of multifactoral disorders cleft palate, congenital hip dislocation, congenital heart disease, type 2 diabetes mellitus, anencephaly, hydrocephalus, myelomeningocele, club foot
Chromosomal disorders results from chromosomal abnormalities such as atypical number of chromosomes or structural abnormality
Chromosomal disorder vs. single-gene disorders single gene disorders are caused by a mutation in one or more genes in a chromosome while chromosomal disorders are caused by structural or numerical abnormalities
Examples of chromosomal disorders down syndrome, turner syndrome, and klinefelter syndrome
Down syndrome trisomy 21 (gathering of 3 pieces of chromosome at one point), may be due to non-disjunction or translocation
Turner Syndrome XO -high risk of uterine and cervical cancer -affects females -infertility -short stature (first indicator of syndrome) -cardiac and kidney issues -lack ovaries
Klinefelter syndrome XXY -extra x chromosome is present -infertility -male genitalia (sperm not produced and testes small) but female characteristics (breasts), possible female organs internally
Down syndrome (more) -affects physical and mental development -risk w/ maternal age (30 if no previous children, 35 if previous children)
Characteristics of Down Syndrome -small head, round face, flat facial profile -slanted eyes and epicanthic fold -large tongue, high-arched palate -small hands, single palmar crease -short stature -muscles tend to be hypotonic, loose joints -delayed developmental stages
Characteristics of Down Syndrome continued -cognitive impairment ranges from mild to major -delayed or incomplete sexual development; males infertile and females have low rate of conception
Germline mutations autosomal dominant, autosomal recessive, x-linked dominant and x-linked recessive -single genes passing on of the trait
Pharmacogenomics study of how a person's genetic inheritance affects the body's response to drugs -uses DNA and amino acid sequencing to create new drugs that work at molecular level to prevent and treat disease
Nutrogenomics studying the relationship between human genome, nutrition and health
Gene therapy available for some diseases, insertions of genes into individuals cells and biological tissues to treat diseases (cancer), mutant alleles are replaced with functional ones
PM poor metabolizer-absent or greatly decreased ability to clear or activate drug -dont get a lot of benefit from drug; build up=side effects
IM intermediate metabolizer-heterozygous for both normal and reduced activity genes -decent results from drug
EM extensive metabolizer-the norm -use the drug, get the benefit, clear it effectively, w/ little to no side effects
RM rapid metabolizer-greatly increased activity that accelerate clearance or increases activation -increased effectiveness, OD easily, leave system so fast benefits negligible
Diagnostic testing used to confirm or rule out a known or suspected genetic disorder in a symptomatic individual. EX: DMD, congenital myotonic dystrophy, hemochromatosis, fragile x, cystic fibrosis
Predicitive testing offered to asymptomatic individuals (usually adults) with a family history of a genetic disorder. EX: FAP and Huntingtons disease
Carrier testing is performed to identify individuals who have a gene mutation for a disorder inherited in an autosomal recessive or X-linked recessive manner. Carriers usually do not themselves have symptoms related to the gene mutation. EX: hemophilia A and Tay-sachs
Prenatal testing performed during a pregnancy to assess health status of a fetus; offered when there is an increased risk of having a child with a genetic condition due to maternal age, family history, ethnicity, or suggestive fetal ultrasound EX: beta-thalassemia
Preimplantation genetic screening used to decrease the chance of a particular genetic condition for which the fetus is specifically at risk;
Preimplantation genetic screening continued test one cell removed from early embryos conceived by in vitro fertilization; then transfer only those embryos determined not to have mutation to mother’s uterus EX: spinal muscular atrophy
Newborn Screening (NBS) identifies individuals who have increased chance of having a specific genetic disorder so that further testing and treatment can be started as soon as possible. EX: PKU, hypothyroidism, and sickle cell
Created by: 1080840216