chapter 12 Flashcards
This type of disorder is one of several ways that a trait/disorder can be passed down through families. If a disease is autosomal dominant, it means you only need to get the abnormal gene from 1 parent to inherit the disease.
autosomal dominant disorder
a disorder in which 2 copies of an abnormal gene must be present in order for the disease/trait to develop
autosomal recessive disorder
a substance/agent known to cause cancer
carcinogen
threadlike structure of nucleic acids & protein found in the nucleus of most living cells, carrying genetic info in the form of genes.
chromosome
a disorder/disease present at birth is known as a ____ disorder/disease.
congenital
The unit of hereditary info passed from parents to offspring is the totality of genetic information contained in DNA (except for some viruses that use RNA), which determines the way the offspring develops.
Gene
Diseases caused by an abnormality in an individual’s genome.
genetic diseases
branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes
genomics
an international scientific research project set up to determine the sequence of chemical base pairs that make up human DNA, & of identifying & mapping all of the genes of the human genome from both a physical & functional standpoint.
Human genome project
Weight at birth of less than 2,500 grams
Low birth weight
The village in southern Japan made famous by the poisoning of its population in 1950s by mercury released into the bay by a plastics factory. Most severely affected were children born with severe brain damage to mothers who’d been exposed while pregnant.
Minamata
a public health program designed to screen infants shortly after birth for a list of conditions that are treatable but not clinically evident in the newborn period.
Newborn screening
testing for diseases or conditions in a fetus/embryo before it’s born.
prenatal testing
substance or agent that causes birth defects
teratogens
Disorders that are caused by a defective gene on the female sex chromosome. The disease occurs predominantly in males. Since females have 2 of these chromosomes, inheritance of the faulty gene has minimal impact on them because of the second normal gene’s presence.
X-linked disorders
Dor Yeshorim, established in the 1980s by a rabbi who had lost 4 children, offer Jewish high-school students in the US, Israel, & other countries blood tests to determine if they’re carriers of what disease?
Tay-Sachs disease.
TRUE OR FALSE:
If a woman takes dietary supplements of folic acid before conception & during early pregnancy, her infant’s risk of devastating genetic conditions is substantially reduced.
TRUE
TRUE OR FALSE:
Every cell in a human fetus has 48 chromosomes
FALSE
TRUE OR FALSE:
Down syndrome is caused by the appearance in cells of an extra copy of chromosome 21.
TRUE
TRUE OR FALSE:
The screening test for cystic fibrosis, which measures enzyme in the blood, yields many false negatives
FALSE
TRUE OR FALSE:
Most children born with Tay-Sachs disease die by age 4.
TRUE
TRUE OR FALSE:
The most effective intervention currently available for BRCA carriers is the surgical removal of a woman’s breasts & ovaries
TRUE
The (mother/father) carries the gene for Huntington’s disease on one pair of chromosomes.
Father
If both parents are carriers of a recessive gene for a genetic disease, what percent of their children will have the disease?
25%
Dr. Robert Guthrie (father of newborn screening), a pediatrician from Buffalo, NY, developed a simple, inexpensive test that could diagnose what from a drop of baby’s blood placed on a piece of filter paper?
Phenylketonuria (PKU)
What is caused by bacteria passed from the mother to her fetus through the placenta & was a devastating disease of newborns before penicillin was developed?
Congenital Syphilis
What causes profound deafness in children whose mothers were infected by the virus while pregnant?
Rubella
A parasitic disease that may go unnoticed in adults, but can cause major neurological damage in the fetus.
Toxoplasmosis
This newborn defect occurred in Europe & Australia in the early 19060s and was caused by the sedative thalidomide.
limb deformities
a midlife deterioration of the brain
Huntington’s disease
a type of dwarfism
Achondroplasia
Characterized by extreme height & cardiovascular abnormalities which occasionally makes the news after the sudden death of an unsuspecting basketball player
Marfan syndrome
effects of this disease are less lethal than those of other chromosomal defects & most affected infants survive
Down syndrome
