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Maternal Newborn-MJ > Basic Principles of Human Genetics Wksh. > Flashcards

Basic Principles of Human Genetics Wksh. Flashcards

1
Q

Material of heredity that is carried in the nucleus of each cell in the body

A

DNA

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2
Q

Body cells that divide by mitosis

A

Somatic cells

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3
Q

What do somatic cells provide?

A

Growth and development for tissue replacement and repair

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4
Q

Reproductive cells formed in the male/female gonads

A

Gametes

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5
Q

How do gametes reproduce?

A

Meiosis (contain 1/2 the genetic material of the parent cell)

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6
Q

What makes up the chromosomes?

A

22 matched pairs of autosomes that control most traits in the body

1 pair of sex chromosomes that determine sex and other secondary sexual traits

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7
Q

Each of the 23 pairs of chromosomes is ______ in terms of composition and traits regulated

A

Homologous or homozygous (matched)

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8
Q

Pictorial analysis of the number, size, and form of an individuals chromosomes

A

Karogram

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9
Q

How is a karogram taken?

A

From a blood sample

Chromosomes are stained and cut out and arranged in specific numeric order according to size.

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10
Q

How are the chromosomes of a karogram sample put in to determine the presence of gross chromosomal disorders? What does a normal karogram look like?

A

Put in groups A-G

Normal: 46XX or 46XY

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11
Q

What are 2 predisposing factors for occurrences of chromosomal abnormalities?

A

Advanced maternal age (over 35) and exposure to teratogens

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12
Q

What does it mean if there is an abnormal number of chromosomes?

A

More or less than required 46–can occur in the autosomes or the sex chromosomes

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13
Q

What is an example of a chromosomal abnormality that results in an extra chromosome?

A

Down Syndrome is an example of an extra chromosome on the 21st allele

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14
Q

What is trisomy?

A

The product of the union of a normal gamete with a gamete containing an extra chromosome—the result is an individual with 47 chromosomes in a cell

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15
Q

What is Kleinfelters?

A

An extra X on the sex chromosome—> a male but with feminine traits

Looks like XXY

If it is XYY it is a male with aggressive masculine traits

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16
Q

What is monosomy?

A

One chromosome of a pair is absent (only 45 chromosomes) in each cell

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17
Q

T/F: Missing an autosome may result in death of the embryo

A

True

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18
Q

The basic unit of heredity

A

Genes

19
Q

What do genes determine?

A

Traits—every characteristic one possesses, from eye color to the disease passed on as a genetic trait to offspring!

20
Q

Pair of genes coded the same for a particular trait

A

Homozygous

21
Q

Pair of genes coded different for a particular trait

A

Heterozygous

22
Q

Genes are ____ or _____ for a trait

A

Dominant or recessive

23
Q

Characteristic that will be expressed in the individual even if its partner gene is different

A

Dominant

EX: Gene for brown eyes is dominant; gene for blue eyes is recessive

A person with one gene from each parent will have brown eyes

24
Q

Characteristic will be expressed only if carried by both chromosomes of a pair

A

Recessive gene

EX: 2 genes for blue eyes are required for a person to have blue eyes; 2 genes for CF is required for offspring to inherit the disease

25
Q

What kind of inheritance is this: Abnormal gene is dominant; a disorder is expressed when the dominant gene is present even if the other gene in a pair is normal

A

Autosomal dominant inheritance (mendalian)

26
Q

What are some examples of autosomal dominant inheritance?

A

Polydacyly (extra digit)
Huningtons chorea
Achondroplasia (dwarfism)
Polycystic kidney disease

27
Q

Who is affected more in autosomal dominant inheritance: males or females?

A

Equally affected

28
Q

What kind of inheritance?

Both genes of a pair must be abnormal for a trait (disorder) to be expressed

A

Autosomal recessive inheritance

29
Q

Autosomal recessive inheritance: Carriers of the trait (heterozygous individuals) are _____ but may pass the trait to offspring.

A

Unaffected clincially

30
Q

Who is affected more in autosomal recessive inheritance: males or females?

A

Equally affected!

31
Q

What are some examples of autosomal recessive inheritance?

A

Tay Sachs
SCA
CF

32
Q

A defective recessive gene is carried on the X chromosome

A

X-linked recessive

Females are predominately carriers and males express the disorders when they receive the gene from their mother

33
Q

What are examples of X-linked recessive diseases?

A

Color blindness
Hemophilia!!!!
Duchenne muscular dystrophy!!!!!

34
Q

A defective dominant gene is carried on the X chromosome; expressed in both male and female offspring who inherit the defective gene

A

X-linked dominant

35
Q

Absence or defect in enzymes responsible for the metabolism of fats, proteins, or carbs

A

Inborn errors of metabolism

36
Q

What are examples of inborn errors of metabolism?

A

This leads to an accumulation of harmful substances–PKU is one

PKU test is mandatory in infants before they can leave the hospital

37
Q

A pattern of inheritance reflecting the interaction of several genetic and environmental factors that create mild to severe defects

A

Multifactorial inheritance

38
Q

What are examples of multifactorial inheritance?

A

Cleft lip
Cleft palate
NTD
Congenital heart disease

39
Q

Genetic counseling may occur in many contexts and settings. Examples?

A

Prenatal clinic
Birthing unit
Well-child clinic
Family planning clinics

40
Q

Agents that cause birth defects

A

Teratogens

41
Q

The severity of defects from teratogens depend on what 3 things?

A
  1. Timing of exposure (organogenesis is most vulnerable time)
  2. Different susceptibility of organ systems
  3. Strength of causative agent
42
Q

Teratogens: What are some examples of causative or suspected agents?

A 
Maternal infection diseases
Drugs and other substances
Pollutants
Radiation
Maternal hypothermia
Effects of maternal med disorders
43
Q

Avoiding fetal exposure–This ideally begins before conception. What is our role for informing women about possible teratogenic infections?

A
  • They need to get the rubella immunization prior to pregnancy (3 months or more)
  • If titer is low, counsel women about situations to avoid
  • Avoid changing cat liter boxes because they have parasites in them and that can cause toxoplasmosis
44
Q

Avoiding fetal exposure: Drugs and other substances. What do we need to know about this to inform preg moms?

A
  • There are pregnancy categories for meds
  • X= DONT TAKE IT!!!!
  • Women should eliminate use of non therapeutic drugs and alcohol
  • It is difficult to establish the effects of illicit drugs

Maternal Newborn-MJ (29 decks)

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