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Health Assessment > Environment and Genetics > Flashcards

Environment and Genetics Flashcards

1
Q

What type of bases is DNA made up of?

A 
Purine Bases (Adenine and Guanine)
Pyrimidine bases (Cytosine and Thymine)
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2
Q

What base does Adenine always pair with?

A

Thymine (replaced by Uracil in RNA)

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3
Q

What does Guanine always pair with?

A

Cytosine

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4
Q

Define Genetics

A

The study of the transmission of single genes within families and the analysis of more complex of inheritance

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5
Q

Define Genomics

A

The study of genes and their function. Genomics aims to understand the structure of the genome, including the mapping genes and sequencing the DNA.

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6
Q

What is the difference between genetics and genomics?

A

Genomics is better because it is tailored for each person’s unique needs and it can help find a treatment that is maximally effective

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7
Q

How many pairs of chromosomes are there in humans?

A

23 pairs

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8
Q

How many pairs of autosomes are there in humans?

A

22 pairs

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9
Q

How many pairs of sex chromosomes are there in humans?

A

1 pair

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10
Q

What are congenital anomalies or disorders?

A

disorders present at birth

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11
Q

What are the types of congenital anomalies/disorder?

A
  1. single-gene
  2. chromosomal
  3. developmental
  4. Teratogenic
  5. Multifactoral
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12
Q

Define Single-gene disorders

A

A trait controlled by one set of alleles that is transmitted to subsequent generations

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13
Q

What do single genes control?

A

Specific functions (color blindness)

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14
Q

What are the 4 types of single-genes?

A
  1. autosomal recessive
  2. autosomal dominant
  3. x-linked recessive
  4. x-linked dominants
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15
Q

What classifies an autosomal recessive disorder?

A

both parents must pass on the allele for the disorder

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16
Q

What is the term used to define parents who are heterozygous for a disease and unaffected?

A

Carriers

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17
Q

Are homozygous parents affected?

A

yes

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18
Q

Give examples of autosomal recessive single-gene disorders

A
  1. cystic fibrosis
  2. PKU
  3. Tay-sachs disease
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19
Q

What classifies an autosomal dominant disorder?

A

When the parent has the dominant allele. Only one parent needs to have the allele to pass it on.

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20
Q

Are there any carriers for the autosomal dominant disorders?

A

No, anyone who has the dominant allele is affected

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21
Q

Why are autosomal dominant disorders termed delayed lethal genotypes?

A

The allele for the disorder may have been passed on to the next generation before diagnosis of the disease in a parent because symptoms may become evident later in life.

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22
Q

Give examples of Autosomal dominant disorders

A
  1. Adult polycystic kidney disease
  2. Huntington disease
  3. Familial hypercholesterolemia
  4. Marfan syndrome
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23
Q

What is Marfan Syndrome?

A

When someone has long limbs, large hands and feet, and their hearts give out

24
Q

What classifies an X-linked recessive disorder?

A

A disorder that comes from the mother’s side. It is manifested in heterozygous males lacking the matching unaffected gene on the Y chromosome. It may appear to skip generations.

25
Q

Who are the carriers for X-linked recessive disorder?

A

Heterozygous females

26
Q

Who are affected by X-linked recessive disorders?

A

Homozygous recessive females

27
Q

Give examples of X-linked recessive disorders

A

Duchenne muscular dystrophy

Classic hemophillia

28
Q

What are X-linked dominant disorders?

A

Dominant disorders that are carried from the females

29
Q

Who are affected by X-linked dominant disorders?

A

Heterozygous males and females

30
Q

Give an example of an X-linked dominant disorder

A

Fragile X syndrome

31
Q

What is Fragile X syndrome?

A

The most common genetic cause of cognitive deficits.

The mutation causes the affected X chromosome to appear constricted or broken on a karyotype

32
Q

When do chromosomal disorders/anomalies occur?

A

When there is an error during meiosis

33
Q

What is one of the most common chromosomal disorders?

A

Down syndrome

34
Q

What increases the risk of having Down syndrome?

A

Increasing maternal Age

35
Q

What screening can be done prior to birth to determine if the fetus has Down syndrome?

A
  1. Triple/quad screen test
  2. first trimester screen test (ultrasound+ maternal blood screening)
  3. Amniocentesis
  4. Choronic villous sampling
36
Q

What are some characteristic in the face of someone who has Down syndrome?

A
  1. small head
  2. round face
  3. Flat facial profile
  4. Slanted eyes and epicanthic fold
  5. large tongue and high-arched palate (causes difficulty feeding as infants)
37
Q

What are some characteristics of the musculoskeletal system of someone who has Down syndrome?

A
  1. Small hands, singular palmar crease
  2. short stature
  3. hypotonic muscle and loss joints (Cindy calls them floppy babies)
38
Q

What are some other characteristics of Down syndrome?

A
  1. multiple heart defects
  2. Delayed developmental stages
  3. Cognitive impairment
  4. Delayed or incomplete sexual development (Males =infertile; Females= lower rate of conception)
39
Q

What are some types of disorders caused by translocation of chromosomes?

A
  1. cleft palate
  2. congenital hip dislocation
  3. congenital Heart disease
  4. Type 2 diabetes
  5. Coronary Artery disease
  6. Obesity
  7. High blood pressure
40
Q

What is a benefit to Disorders caused by translocation of chromosomes?

A

Sometimes they can be changed by altering lifestyles especially if they are found out early on.

41
Q

How early can testing be done for genetic disorders?

A
  1. prior to conception
  2. during first trimester of pregnancy
  3. as a newborn
42
Q

Who is testing recommended for?

A
  1. someone with a family history of a specific disease
  2. previous birth to a child with abnormality
  3. Ethnic groups with high risk for a specific disease
  4. Pregnant women over 35 years of age (AMA= Advanced Maternal Age)
43
Q

What disease is common in Jewish/Eastern European Families?

A

Tay-sachs

44
Q

What are the types of diagnostic tools used?

A
  1. Blood tests of a pregnant woman
  2. In utero testing
  3. Neonatal testing
  4. Genogram
45
Q

Give an example of blood tests for pregnant women

A

Alpha-fetoprotein testing

46
Q

Give an example of in utero testing

A

Amniocentesis

Chorionic villus assay

47
Q

Give examples of neonatal testing

A 
Excreted metabolites (e.g. PKU)
Blood testing
48
Q

What is diagnostic testing used for?

A

To confirm a diagnosis based on physical signs

49
Q

What is predictive testing used for?

A

to detect gene mutations associated with disorders that appear later in life

50
Q

What is carrier identification testing used for?

A

people with a familial history of recessive genetic disorders

51
Q

What is prenatal testing used for?

A

To test a fetus when there is a risk of bearing a child with mental or physical disabilities

52
Q

What is newborn screening used for?

A

A preventative health measure once the baby is born

53
Q

What is forensic testing used for?

A

to identify an individual for legal purposes

54
Q

What is research testing used for?

A

for finding unknown genes and identifying the function of a gene

55
Q

What is pre-implantation used for?

A

To genetically manipulate the outcome of the possible implanted embryo

56
Q

Can insurance cover genetic testing?

A

A lot of times insurance will not cover genetic testing

57
Q

Can insurance use research genetic testing against you?

A

No, they have to cover you if you get research genetic testing done and you have to have medical treatment against the disease.

Health Assessment (14 decks)

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