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Advanced Pathophysiology 19 > Genes and Genetic Disease > Flashcards

Genes and Genetic Disease Flashcards

1
Q

Allele

A

Different version of a paired gene

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2
Q

Mutagen

A

Substance that alters genetic material (DNA)

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3
Q

Autosome

A

Chromosome that is not a sex chromosome

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4
Q

Gene

A

Segment of DNA that is the basic unit of inheritance

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5
Q

Codon

A

Sequence of three nitrogenous bases that specifies a particular amino acid

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6
Q

Intron

A

Noncoding segment spliced out of mRNA

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7
Q

Mutation

A

Alteration of DNA capable of being passed to offspring

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8
Q

Exon

A

Segment of mRNA that codes for proteins

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9
Q

Chromosome

A

Strand of condensed chromatin visible right before cell division

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10
Q

Karotype

A

A display of chromosomes ordered according to length and centromere location

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11
Q

A ________ cell has ___ pairs of chromosomes

A

23

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12
Q

Frame shift mutation of DNA

A

Involves addition or deletion of a number of base pairs that is not a multiple of three and thus alters all of the codons downstream from the site of insertion or deletion

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13
Q

A ________ gene will be expressed only if it is present in two copies

A

Recessive

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14
Q

People with Down’s Syndrome have high risk for developing ___________ disease because of involvement of chromosome 21

A

Alzheimer

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15
Q

Persons who have the 47,XXY karyotype have _______

A

Klinefelter syndrome

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16
Q

Translocation

A

Interchanging of genetic material between nonhomologous chromosomes

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17
Q

Difference between heterozygous and homozygous

A

Heterozygous means that the two genes at the same locus on both chromosomes are not identical, but homozygous means that the two genes are identical

18
Q

Difference between monosomy and trisomy

A

Monosomy means that one of the chromosomes in somatic cells has only one copy instead of the normal two copies but trisomy means that one of the chromosomes in somatic cells have three copies

19
Q

Difference between genotype and phenotype

A

A genotype is an individual’s genetic makeup, but a phenotype is the outward appearance of an individual

20
Q

Difference between mitosis and meiosis

A

In mitosis, a diploid cell makes a copy of itself, but in meiosis, a haploid cell is created from a diploid

21
Q

Synthesis of a protein

A

RNA polymerase binds to DNA promoter region
Transcription
mRNA is spliced to remove noncoding sections
mRNA leaves the nucleus
Translation

22
Q

What type of genetic disorder is Huntington Disease

A

Single-gene disorder

23
Q

What type of gene disorder is Turner Syndrome

A

Chromosomal Disorder

24
Q

What type of gene disorder is Down Syndrome

A

Chromosomal Disorder

25
Q

What type of gene disorder is Fragile X syndrome

A

Chromosomal Disorder

26
Q

What type of gene disorder is Cystic Fibrosis

A

Single-gene Disorder

27
Q

What type of gene disorder is Klinefelter syndrome

A

Chromosomal Disorder

28
Q

What type of gene disorder is Duchenne muscular Distrophy

A

Single-gene Disorder

29
Q

Diploid Cell

A

A somatic cell that has 46 chromosomes in its nucleus

30
Q

Genetic diseases caused by __________ usually are autosomal dominant, autosomal recessive, or X-lined recessive

A

Single genes

31
Q

X-linked recessive diseases are seen much more often in _____ than in _____

A

males, females

32
Q

The structure of _____ is a double helix

A

DNA

33
Q

Proteins are made of a sequence of

A

amino acids

34
Q

If cells have three copies of each chromosome, ______ is present

A

Triploidy

35
Q

______ of chromosomal material has more serious consequences than ________ of chromosomal material

A

Loss, duplication

36
Q

Barr body

A

An inactivated X chromosome that is seen in normal female cells

37
Q

Haploid Cell

A

A cell that has only 23 chromosomes; a gamete (sperm or egg)

38
Q

Homologous chromosomes

A

A pair of identical chromosomes

39
Q

Polyploidy

A

Condition in which cells have more than two copies of each chromosome

40
Q

Nondisjunction

A

An error during meiosis or mitosis in which homologous chromosomes or sister chromatids fail to separate normally

41
Q

Carrier

A

An individual who has a disease-causing allele but is phenotypically normal, often because the allele is recessive and the individual is a heterozygote

Advanced Pathophysiology 19 (8 decks)

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