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System Screenings I > Development and Genetics > Flashcards

Development and Genetics Flashcards

1
Q

What is the end product when a sperm and ovum combine?

A

Zygote

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2
Q

When a zygote is formed, it splits. When there are 8 cells, they each have equal potential. What does this mean?

A

They can all become everything a person needs for a body; if a cell is lost, a person can still fully develop from the 7 remaining cells

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3
Q

Term for inner cell mass (embryo) and trophoblast (placenta).

A

Blastocyst

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4
Q

What are the three germ layers?

A
  1. Ectoderm
  2. Mesoderm
  3. Endoderm
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5
Q

Germ layer that becomes the skin and nervous system

A

Ectoderm

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6
Q

Germ layer that becomes the muscles and bones

A

Mesoderm

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7
Q

Germ layer that becomes the GI tract

A

Endoderm

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8
Q

Occurs during organogenesis; time where organs are particularly susceptible to injury, cells are rapidly dividing, cells are migrating, and important interactions between cells are occurring

A

Critical periods

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9
Q

When do most critical periods occur?

A

First 3 months of pregnancy

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10
Q

Fetal RBC contain fetal Hb which are replaced by adult Hb after birth. What is the difference between the two Hb’s? Why does it make the switch after birth?

A

Fetal Hb has a higher affinity to O2; because of the higher affinity, it is also harder for the O2 to get to the baby’s body tissue

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11
Q

What is the importance of surfactant and gestational age?

A

Surfactant isn’t produced by the baby’s body until later pregnancy; premies don’t have enough surfactant to aid with breathing when born

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12
Q

Where are fetal RBC’s made?

A

Liver

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13
Q

Study of birth defects

A

teratology

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14
Q

Anything that can produce a birth defect?

A

teratogen

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15
Q

What are physical teratogens?

A
  1. X-rays

2. Other forms of irradiation

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16
Q

What are chemical teratogens?

A
  1. Alcohol
  2. Illegal drugs - cocaine
  3. Thalidomide - limb deficiencies
  4. Diethylstilbestrol (DES) - reproductive tract abnormalities and cancers
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17
Q

What are microbial teratogens?

A
  • Direct effects:
    1. Toxoplasma (cat and cat litter)
    2. Other
    3. Rubella
    4. Cato megalovirus
    5. Herpes virus
  • Indirect effects:
    Weakening of the mother cause fetal weight reduction, growth retardation, premature birth
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18
Q

The DNA sequence determines the sequence of proteins

A

DNA base pair

19
Q

All of the DNA that determines a protein, along with the regulation of the synthesis of that protein

A

Genes

20
Q

Structures that contain multiple genes and DNA regulatory regions

A

Chromosomes

21
Q

What are the types of chromosomal abnormalities?

A
  1. Structural
  2. Numerical
  3. Sex aneuploidy
22
Q

Structural chromosomal abnormality where there is a loss of part of a chromosome

A

Deletion

23
Q

Structural chromosomal abnormality where part of a chromosome is moved to another chromosome; may be moved to regulatory elements and turn expressions on or off

A

Translocation

24
Q

What are 2 common diseases that are examples of structural chromosomal abnormalities?

A
  1. Fragile X

2. Philadelphia chromosome (associated with myelogenous leukemia)

25
Q

Numerical chromosomal abnormality that has the wrong number of chromosomes

A

Aneuoploidy

26
Q

Numerical chromosomal abnormality where where there is a loss of one chromosome; incompatible with life

A

Monosomy

27
Q

Name the numerical chromosomal abnormality where there is a gain of one chromosomes; most are lethal, but some will result in birth defects if they survive. Which chromosomes result in abnormalities, not death?

A

Trisomy; 13, 19, and 21

28
Q

Numerical chromosomal abnormality where there is a loss of an X chromosome (OX)

A

Turner’s syndrome; females only

29
Q

Numerical chromosomal abnormality where there is a gain of an X chromosome (XXY)

A

Klinefelter’s syndrome; males

30
Q

Changes in DNA sequence that produce a change in function

A

Gene mutation

31
Q

Different versions of the same gene; code for different characteristics

A

Allele

32
Q

Alleles on different chromosomes are the same

A

Homozygous

33
Q

Alleles on different chromosomes are different

A

Heterozygous

34
Q

The genetic make up of a person’s DNA; the alleles in their DNA

A

Genotype

35
Q

How the genes are expressed in the individual; what you see

A

Phenotype

36
Q

Trait that is expressed water homozygous or heterozygous; overshadow recessive genes

A

Dominant

37
Q

True or false:

Not all people with an autosomal dominant gene will have the same S&S.

A

True; relates to penetrance and expressivity

38
Q

Measure of whether the gene is expressed; a person may have the gene but not the disorder

A

Penetrance

39
Q

Measure of how well the trait is expressed; how severe the disease is

A

Expressivity

40
Q

Trait where both alleles are expressed

A

Codominant (blood types - AB)

41
Q

Trait where only expressed of dominant alleles are not present; need to be homozygous

A

Recessive

42
Q

What are 4 examples of recessive trait diseases?

A
  1. Cystic fibrosis (1 in 25 whites are carriers)
  2. Tay-sachs disease
  3. Sickle cell anemia
  4. Thalassemia
43
Q

Disorders not linked to a single gene; involve several genes and exogenous factors

A

Multifactorial inheritance

44
Q

Effect where persons with a more severe form of the disease have a greater chance of transmitting the disease

A

Dose effect

System Screenings I (23 decks)

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