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PMP 101 Health, Disease and Patient > Genetic diseases > Flashcards

Genetic diseases Flashcards

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1
Q

Genetics

A
  • Study of heredity in general and of genes in particular
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2
Q

Heredity

A
  • The passing of the traits from the parent to offspring (inheritance)
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3
Q

Phenotype

A
  • The indavidulas observable traits
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4
Q

Genotype

A
  • The set of genes in our DNA which are responsible for a particular trait
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5
Q

True breeding

A

When the plants self-pollinate, all their offspring are of the same variety

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6
Q

Hybridisation

A

Mating, or crossing, of two varieties

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7
Q

Monohybrid cross

A

A cross between two parents that breed true for different versions of a single trait

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8
Q

Homozygous

A

An organism possessing two identical alleles for that trait (gene)

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9
Q

Heterozygous

A

An organism possessing two different alleles for that trait (gene)

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10
Q

Somatic mutations

A

Changes to the DNA of somatic cells after the birth, its non-heritable

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11
Q

From DNA to protiens

A
  • DNA sequence transcribed into RNA
  • Mature mRNA is translated into proteins. RNA sequence is read consecutively in groups of three consecutive nucleotides (codons), from the start codons
  • Codons are nonoverlapping and the message has no gaps
  • There are stop codons that block the translation
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12
Q

Single gene disorder

A
  • Mutations can lead to a gain-of-function but also to a loss-of-function
  • The resulting protein alteration/deficiency is responsible for the disease symptoms
  • A condition that is present from birth
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13
Q

Autosomal dominant

A

If a single mutated allele is sufficient to cause the disease (heterozygosis)

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14
Q

Autosomal recessive

A

If both mutated allele must be inherited to be affected (homozygosis)

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15
Q

X-linked recessive or dominant

A

Mutated gene is present on the X chromosome

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16
Q

Missense mutations

A
  • These are base changes that alter the codon for an amino acid resulting in its replacement with a different amino acid
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17
Q

Nonsense mutations

A
  • Base changes that convert an amino acid codon to a stop codon, resulting in a premature termination of translation and the production of a shortened protein
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18
Q

Silent mutations

A

Do not cause any change in an amino acid

19
Q

Frameshift mutation

A
  • These mutations result from the insertion or deletion of one or more bases causing the alteration of the reading frame of the gene and a different set of codons, leading to an altered protein
20
Q

Promoter mutations

A
  • Affect the way gene transcription is regulated, often abnormally reducing or enhancing the expression of certain genes
21
Q

Sickle Cell Anaemia

A
  • Autosomal recessive
  • Caused by homozygous gene mutation beta globlin gene
  • Red blood cells form an abnormal crescent shape
  • Haemoglobin (protein) is abnormally shaped
  • Don’t move easily through your blood vessels
  • Form clumps and get stuck in the blood vessels
22
Q

Numerical Abnormalities

A
  • When an individual is missing either a chromosome from a pair or has more than two chromosomes of a pair
23
Q

Structural Abnormalities

A

When the chromosome’s structure is altered

24
Q

Euploid

A
  • 46 chromosomes in somatic cells which is 22 chromasomes and 2 sex chromasomes
25
Q

Aneuploid

A
  • Results from nondisjunction in meiosis of the germ line cells leading to genetically unbalanced eggs or sperm
    Monosomy - only one of a particular type of chromosome
    Trisomy - three of a particular type of chromosome
26
Q

Nondisjunction

A
  • Abnormal mumber of chromasomes chromasomes in each cell
  • Can cause some some forms
27
Q

Stomatic mosaicism

A
  • Two or more cell lines with different chromosome compositions in an individual
28
Q

Trisomy

A
  • Occurs when an individual has three of a particular type of chromosome
29
Q

Downs syndrome

A
  • Short stature
  • Eyelid fold
  • Flat face
  • Stubby fingers
  • Wide gap between first and second toes
30
Q

Edward Syndrome

A
  • A small, abnormally shaped head
    a small jaw and mouth
    delayed growth
  • Trisomy extra chromasome
31
Q

Patau syndrome

A
  • Mental deficiency
  • Severe central nervous malformations
  • Sloping forehead, malformed head
  • Scalp defect
  • Trisomy extra chromasome 13
32
Q

Turner syndrome

A
  • Female born with single X chromasome
  • Short, with broad chest and widely spaced nipples
  • Can be of normal intelligence and function with hormone therapy
  • Life expectancy is normal in most cases
33
Q

Klinefelter syndrome

A
  • Male with underdeveloped testes and prostate; some breast overdevelopment
  • Long arms and legs; large hands
  • Near normal intelligence
  • No matter how many X chromosomes, presence of Y renders individual male
  • XXY chromasome Trisomy
34
Q

Deleation mutation

A
  • One or both ends of chromasome breaks off
  • 2 breaks at the same time causes loss of internal segment
35
Q

Duplication mutation

A
  • Chromasomal segment more than once in the same chromasome
36
Q

Inversion mutation

A
  • Chromasome is broken down and inverted and reattached
  • Gene occours in reversed order
37
Q

Translocation mutation

A
  • Portion of chromasome is transfered to another chromasome
  • Insertion which causes a frame shift
  • Robertsonian follows breakage of two nonhomologous chromosomes and improper re-assembly
38
Q

Multifactor disorder

A
  • Familiar clustering but doesn’t conform to single gene inheretance
  • Non communicable no change in DNA but there is a change in expression with the effects of environment
  • Additive effects impacts on gene
  • Type 2 diabetes caused by genes and environment
39
Q

Cancer

A
  • Genetic (breast cancer) but not necessarily inherited dependant on environment and gene
  • Only germ line inherited other cancers are somatic
  • Unregulated cell proliferation - undetect mistakes in the DNA caould cause DNA replication faster
40
Q

Malignant tumor

A
  • Uncontrolled cell division that has a metastatic spread
  • Spread of the cells by breaking away
  • Via lyphatic or blood
  • loose cellular funtion and apoptosis
41
Q

Mutation of Oncogenes

A
  • Activation stimulates cell growth and division in response to specific signals
  • In cancers its predominently switched on
42
Q

Mutations of tumor supressor gene

A
  • Unable to block or regulate division
  • Cell is unable to undergo apoptosis
  • Permenently switched off (P53)
43
Q

Genetic polymorphism

A
  • 2 or more diffrent forms of Dna sequence on the same locus present in 1% of a population
  • Due to susbstitution of single nucleotide (SNPs)
  • Determine the diversity of indaviduals and sometimes have a role in drig response present risk factors for disease

PMP 101 Health, Disease and Patient (64 decks)

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