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PHA 520 - Foundations > Genetics Basic Info > Flashcards

Genetics Basic Info Flashcards

1
Q

Hereditary units of DNA transmitted from one generation to another that code for proteins

A

genes

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2
Q

The specific location of a gene on a chromosome

A

locus

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3
Q

Different versions of a gene; humans have 2 for each autosomal gene

A

alleles

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4
Q

Chromosomes that have the same genes at the same loci, one maternal and one paternal

A

Homologous chromosomes

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5
Q

The genetic information contained in the cells, on the chromosomes, for a particular species

A

genome

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6
Q

Any chromosome that is not a sex chromosome; we have 22 of them

A

autosome

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7
Q

How many pairs of allosome chromosomes do humans have?

A

1 (sex chromosome pair, XX or XY)

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8
Q

The number of chromosomes in sex cells/gametes (n=23)

A

haploid number (n)

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9
Q

The total number of chromosomes in somatic cells (2n=46)

A

diploid number (2n)

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10
Q

Short arm is the _ arm.

Long arm is the _ arm.

A

short arm = p

long arm = q

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11
Q

In what sorting order are chromosomes numbered?

A

Longest to shortest, except for sex chromosomes

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12
Q

All of the alleles of an organism

A

genotype

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13
Q

A measurable trait an organism has

A

phenotype

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14
Q

How many genotypes and phenotypes are listed below for albinism:
AA, Aa, aa
Pigmented, pigmented, albino.

A

3 genotypes

2 phenotypes

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15
Q

When two alleles for a trait are equally expressed

A

Codominance

ex. AB blood type

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16
Q

When heterozygotes have phenotypes that have both alleles visible as a blend (one isn’t expressed over the other)

A 
incomplete dominance 
(ex. wavy hair)
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17
Q

The probability that individuals in a population who have a particular gene combination will show the condition

A

penetrance

ex. if a mutation causing diabetes has a 95% penetrance, 95% of the people with the mutation will develop diabetes

18
Q

The components of the phenotype that are exhibited in an individual

A

expression

two people with MD showing different symptoms

19
Q

Genetic diseases that increase in severity or have earlier onset with each successive generation

A

anticipation

ex. Huntington’s dx

20
Q

Two types of chromosomal abnormalities

A

Numerical

Structural

21
Q

Most common type of chromosomal abnormality

A

aneuploidy (abnormal number, i.e. 45 or 47)

22
Q

The rupture of a chromosome resulting in the pieces “re-sticking” in the wrong combinations

A

Balanced translocation

23
Q

When a chromosome piece is lifted out, turned around, and reinserted

A

Inversion

24
Q

Types of unbalanced chromosomal abnormalities

A

Deletion

Insertion

25
Q

What translocation tends to arise as an offspring of a balanced carrier?

A

Unbalanced translocation

26
Q

Robertsonian translocation

A
  • involves any 2 of: chromosomes 13, 14, 15, 21, 22
  • Results in formation of a “new” chromosome
  • Bigger chromosome produces an unbalanced gamete
27
Q

Pedigree symbol:

Male

A

Square

28
Q

Pedigree symbol:

Female

A

Circle

29
Q

Pedigree symbol:

Diagonal line through symbol

A

Deceased

30
Q

Pedigree symbol:

Shaded symbol

A

Affected with trait

31
Q

Pedigree symbol:

Half-shaded symbol

A

Carrier of trait

32
Q

Pedigree symbol:

Horizontal line

A

Siblings

33
Q

Pedigree symbol:

Line of descent

A

Offspring

34
Q

Pedigree symbol:

Two hash marks

A

Divorced/Separated

35
Q

Pedigree:

The person seeking genetic advice (represented by an arrow)

A

Consultand

36
Q

Pedigree:

The affected individual(s)

A

Proband

37
Q

Pattern of inheritance where a mutation in a single allele can cause disease

A

Autosomal dominant

ex: Huntington’s disease (HH, Hh affected)

38
Q

Pattern of inheritance where 2 copies of the diseased allele are required for expressing the phenotype

A

Autosomal recessive

ex. Cystic fibrosis

39
Q

Pattern of inheritance where the mutant allele is located on the X chromosome

A

X-linked

ex. Muscular dystrophy, Fragile X syndrome

40
Q

What is more likely: sporadic or inherited cancer syndrome?

A

sporadic cancer

PHA 520 - Foundations (7 decks)

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