Ch. 8 & 9 Quiz Flashcards
What is the difference between genetics and genomics?
Genetics is the study of single genes and what effect they have. Genomics is a study of the function and interaction of all genes in a genome.
What percentage of miscarriage are estimated to chromosomal in origin?
62%
What is Tay-Sachs disease and what ethnic groups are more prone to it?
Overgrowth of fats. Jews, certain Canadians/Cajuns, Amish
What is Talassemia and what ethnic groups are more prone to it?
Blood hemoglobin disorder. Mediterranean, Middle Eastern, Central Asian
What type of disease is PKU and what ethnic groups are more prone to it?
Metabolic - can’t break down phenylalanine. Irish/Scottish, Scandinavian, Iceland, Polish
What type of disease is Cystic Fibrosis and what ethnic groups are more prone to it?
Chronic lung, thick mucous. Whites, Jews, Hispanics
What is the relevance of genetics to nursing?
Facilitates referral for specialized services.
Name 2 prenatal genetic tests.
CVS and aminocentesis.
Name 2 types of maternal genetic screenings.
AFP and triple marker.
What cancers can be screened for?
Breast & ovarian (Brca1-Brca2), Huntingtons & Alzeimers
What is the difference between recessive and dominant genes?
For a dominant trait to be expressed, it only takes 1 gene (remember we have 2 of each). For recessive trait to appear, both genes must support that trait.
What is the difference between genotype and phenotype?
Genotype is the genetic makeup of an organism, phenotype is the outward manifestations of the organisms genetics. (i.e., what it looks like)
What is a Karyotype?
It is a picture of a genetic profile.
What birth defects does folic acid prevent?
Neural tube defects.
What does congenital mean?
Present at birth.
What are teratogens?
Any agent that can impede or halt the development of an embryo or fetus. Drugs, chemicals, infections, radiation, diabetes and PKU in the mother.
What does homologous mean in regard to genetics?
It refers to chromosome pairs.
What is an autosome?
Non-sex chromosomes.
What are Loci?
Loci is plural for locus and is the specific location of a gene or DNA sequence on a chromosome.
What are alleles?
A single gene of the pair that forms a trait.
What is meant by homozygous? Heterozygous?
Having identical alleles for a single trait. Having different alleles for a single trait.
What abnormalities are a major cause of reproductive loss, congenital problems, and gynecologic disorders? Name 2.
Chromosome abnormalities. Turners syndrome (monosamy x) and Klingenfelters syndrome (Trisomy xxy).
What is chromosome translocation and what causes it? What syndrome?
Exchange of material between chromosomes. Caused by drugs/viruses/radiation. Cri du chat.
Name some uni-factorial defects.
Marfran’s, Treacher Collins, Dwarfism.
What is the difference between autosomal dominant and autosomal recessive?
In an autosomal dominant, it only takes 1 defective gene to produce the defect, in recessive it takes 2.
Which type of defect inheritance is more severe in males?
X-linked dominant inheritance. X-linked means it is on the X chromosome. Females transmit to offspring 50% of the time.
What is a multifactorial method of transmission? Give examples.
Most common. Combination of genetic and environmental factors. Cleft lip/palate, neural tube defects, heart, pyloric stenosis.
When does implantation of an egg usually occur?
6 days after fertilization.