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Flashcards in Exam #2 Deck (33)
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1
Q

Heredity

A

genetic disorders/ inherited disorders are disorders that can be passed from one generation to the next

  • disorder in the gene or chromosome structure
  • alterations of a whole chromosome, a part of a chromosome or even a single gene manifest as a genetic disorder
2
Q

Chromosomes

A
44 autosomes (22 pairs)
2 sex chromosomes (1 pair)
3
Q

Phenotype

A

expression of the gene (appearance of the gene)

4
Q

Genotype

A

composition of the gene

5
Q

Genome

A

Complete set of genes

6
Q

Homozygous

A

two like genes for a trait

7
Q

Heterozygous

A

Unlike genes for a trait

8
Q

Dominant

A

dominant in their action over others

9
Q

Recessive

A

a gene that is not dominant

10
Q

Autosomal dominance

A
  • person with dominant gene for a disease is usually heterozygous
  • huntington’s chorea, OI, marfan syndrome
  • one dominant gene and one healthy gene
11
Q

Two dominant genes mean….

A

never good

-baby will not survive

12
Q

Autosomal recessive

A
  • most genetic disorders are inherited as recessive traits
  • does not occur unless 2 genes for the disease are present
  • many unborn errors (cystic fibrosis, tay sachs, galactosemia, pku)
13
Q

X-linked dominant (sex linked dominant)

A
  • some genes for disorders are located on and transmitted only be female sex chromosome (X)
  • no carriers in X linked dom.
14
Q

X-linked recessive

A
  • majority of x-linked disorders are recessive
  • female- normal gene also present blocks expression of the disease
  • Only male children will have the disease
  • muscular dystrophy, hemophilia
  • daughters are the carriers but not affected
15
Q

Multifactorial (polygenic)

A
  • congenital disorders present at birth, heart disease, HTN, DM, Pyloric stenosis, cleft lip/palate, NTD, mental illness
  • Environmental influences determine if the disorder is expressed
16
Q

Non-dysjunction

A
  • meiosis
  • -cell division, number of chromosomes in cell reduced to 1/2 for repro., non-dysjunction is when the division is uneven
  • presence of 45 is incompatible with life
  • can also occur with sex chromosomes
17
Q

Deletion abnormalities

A

-a part of the chromosome breaks during cell division causing a normal number of chromosomes plus or minus an extra portion of a chromosome

18
Q

Translocation abnormalities

A
  • 2 non-homologous chromosomes that exchange material
  • child gains an additional chromosome through another route
  • have the correct numbers of chromosomes
  • balanced translocation
  • unbalanced translocation
19
Q

Duplication abnormalities

A

part of chromosome is included twice (been repeated)

20
Q

Inversion abnormalities

A

linear stretch of DNA is reversed within the chromosome

21
Q

Mosaicism

A
  • non-dysjunction disorder-did not divide evenly

- occurring after fertilization of the ovum as the structure begins mitotic division

22
Q

Karotyping

A
  • visual presentation of a person’s chromosome pattern

- blood sample or scraping of cells from buccal membrane

23
Q

Barr body determination

A
  • determine sex of child

- scrape cells from buccal cavity, stain, and magnify

24
Q

Amniocentesis

A
  • watch fetal heart rate after
  • time frame: 14-16 weeks gestation
  • locate pocket of amniotic fluid via ultrasound
  • risks: infection, spotting, leakage, cramping, fetal loss
25
Q

Chorionic Villi Sampling

A

(tissue sample)

  • retrieve and analyze chorionic villi for chromosome analysis
  • risks: miscarriage, birth defects, ROM, leakage of fluid, spotting, infection
  • WILL NOT DETERMINE NEURAL TUBE DEFECTS
  • result time if faster
26
Q

Zygote

A

union

  • chromosomes are paired
  • beginning of genetic foundation
  • chromosome abnormalities happen at moment of fertilization
27
Q

Cleavage

A

rapid division of zygote

28
Q

Blastomeres

A

cells of early division

29
Q

Morula

A
  • solid mass of blastomeres
  • 12-16 cells
  • no increase in size, enters uterus
  • after entering uterus morula changes, fluid passes into intracell spaces separates blastomeres into 2 distinct parts- inner and outer layers
30
Q

Blastocyst

A

entire structure

31
Q

Trophoblast

A
  • outer layer
  • attaches to endometrium (“implants”)
  • become placenta
32
Q

Embryoblasts

A
  • inner cell mass of blastocyst

- develops into body of the embryo

33
Q

Implantation

A

-occurs 7-10