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BIO1334 - Genetics > Human Molecular Genetics > Flashcards

Human Molecular Genetics Flashcards

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1
Q

What are environmental factors to development/disease?

A

Physical
Chemical
Biological

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2
Q

What are genetic factors to development/disease?

A

Polygenic

Monogenic

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3
Q

What did Richard Doll prove?

A

That smoking caused lung cancer

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4
Q

How are over 4,000 human diseases caused by?

A

Single gene defects§

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5
Q

What studies are helpful when determine environmental genetics effects on diseases/developments?

A

Twin studies

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6
Q

What can defective enzymes have a major consequence for?

A

Metabolic pathways

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7
Q

Where can mutation occur to cause loss of function or gain of function?

A

Protein-coding genes

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8
Q

Define dominant referring to modes of inheritance:

A

Vertical patterns of affected individuals

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9
Q

Define recessive referring to modes of inheritance:

A

Horizontal patterns of affected individuals

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10
Q

Define autosomal recessive referring to modes of inheritance:

A

Consanguinity often present between parents

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11
Q

Define autosomal referring to modes of inheritance:

A

Males and females affected with equal probability

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12
Q

Define X-linked recessive referring to modes of inheritance:

A

Males affected, female carriers

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13
Q

Define X-linked dominant referring to modes of inheritance:

A

All daughters of affected males are affected

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14
Q

Define mitochondrial referring to modes of inheritance:

A

Non-Mendelian

Maternal inheritance

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15
Q

What is consanguinity?

A

The property of being from the same kinship as another person

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16
Q

How can you tell if the disease is autosomal dominant in a pedigree?

A
  • Affects each generation
  • Both sexes
  • Normal siblings of affected individuals do not transmit the trait to their offspring.
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17
Q

Example of autosomal dominant diseases:

A
  • Huntington’s disease (Huntington’s chorea)
  • Polycystic kidney disease
  • Familial hypercholesterolaemia
18
Q

How can you tell if the disease is autosomal recessive in a pedigree?

A
  • Males and females are equally likely to be affected
  • Found in siblings, not parents of affect or the offsprings of affected
  • Consanguineous mating
19
Q

Examples of autosomal recessive:

A
  • Cystic fibrosis
  • Phenylketonuria
  • Sickle cell anaemia
20
Q

How can you tell if the disease is x-linked recessive in a pedigree?

A
  • Never passed from father to son
  • Males more affected than females
  • Passed from an affected grandfather, though his carrier daughters then to half of his grandsons
21
Q

Examples of x-linked recessive:

A
  • Duchenne muscular dystrophy

- Haemophilia A and B

22
Q

How can you tell if the disease is non-mendelian (mitochondrial) in a pedigree?

A

Everyone inherits the condition from the maternal line

23
Q

Examples of mitochondrial disease:

A
  • Leber’s hereditary optic neuropathy (LHON)

- Myotonic epilepsy and ragged red muscle fibre disease (MERRF)

24
Q

What 6 complications can affect the interpretation of pedigrees?

A
  • New mutations
  • Penetrance
  • Expressivity
  • Delayed onset
  • Anticipation
  • Imprinting
25
Q

What is complete penetrance?

A

The allele is said to have complete penetrance if all individuals who have the disease-causing mutation have clinical symptoms of the disease

26
Q

What is highly penetrant?

A

If an allele is highly penetrant, then the trait it produces will almost always be apparent in an individual carrying the allele

27
Q

What is incomplete penetrance or reduce penetrance?

A

Penetrance is said to be reduced or incomplete when some individuals fail to express the trait, even though they carry the allele.

28
Q

What is low penetrance?

A

An allele with low penetrance will only sometimes produce the symptom or trait with which it has been associated at a detectable level. In cases of low penetrance, it is difficult to distinguish environmental from genetic factors

29
Q

How to identify a disease gene?

A

-Chromosomal location
-Gene
-mRNA/cDNA
-Protein
(POSITIONAL CLONING CAN TAKE PLACE BETWEEN ANY STAGE)

30
Q

What is positional cloning?

A

Laboratory technique used to locate the position of a disease-associated gene along the chromosome

31
Q

What is cytogenetics?

A

Diseases correlate with a visible chromosomal deletion or rearrangement

32
Q

What doe genetic linkage allow in terms of disease?

A

Disease genes to be mapped

33
Q

What can be used when mapping?

A

Molecular markers

34
Q

What are different types of markers?

A
  • Phenotypic markers

- Molecular markers

35
Q

Examples of molecular markers:

A
  • Structural rearrangements
  • SNPs
  • RFLPs
  • INDELS
  • Copy number variations eg VNTRs with multiple alleles
36
Q

How can be used for genetic linkage analysis?

A

Log Odds Scores

37
Q

What is the equation for lod score?

A

Log10 (odds loci linked/odds loci are unlinked)

38
Q

What are Lod scores?

A
  • Logarithms

- Data from separate families can be polled from different pedigrees by adding lod scores

39
Q

What does a lod score greater than or equal to 3.0 indicate?

A

Likelihood of observing the given pedigrees if the two loci are not linked is less than 1 in 1000

40
Q

Why has there been so much progress in identifying common disease genes?

A
  • Genome wide association studies (GWAS) mean we can study a large proportion of the common human variation in one experiment
  • GWAS employ case-control design comparing two large groups of individuals
  • All individuals in each group are genotyped for the majority of common known SNPs.
  • Association is then measures using Log scores
41
Q

What diseases did GWAS reveal be associated with five major polymorphism?

A

Age-related macular degeneration

42
Q

Is it genetics or environment when the gene pool has changed very little over the same period?

A

Environment

BIO1334 - Genetics (24 decks)

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