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Diagnosis of Genetic Diseases > Lecture 9 > Flashcards

Lecture 9 Flashcards

1
Q

what is a complex genetic disease?

A

a polygenic disorder and a multifactorial cause, so the role of different genes associate to the pathological phenotype and the involvement of the environmental factors can influence the phenotype

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1
Q

what is a complex genetic disease?

A

a polygenic disorder and a multifactorial cause, so the role of different genes associate to the pathological phenotype and the involvement of the environmental factors can influence the phenotype

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1
Q

what is a complex genetic disease?

A

a polygenic disorder and a multifactorial cause, so the role of different genes associate to the pathological phenotype and the involvement of the environmental factors can influence the phenotype

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2
Q

what are some main features of complex diseases?

A
  1. do not show a classical mendelian pattern of inheritance
  2. moderate to high evidence of genetic involvement
  3. we don’t have causative genes, but susceptibility genes
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3
Q

describe susceptibility genes:

A

we have interacts of two or ore loci that are associated to the phenotype

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4
Q

what is the additive effect?

A

when the effect of loci is equal to the sum of their independent effect

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5
Q

what is the multiplicative effect?

A

when the loci interact in a way that results in an even greater risk than generated independent by each locus

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6
Q

what is a qualitative trait?

A

any trait measured by its presence or absence → yes or no question

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7
Q

what is a quantitative trait?

A

a trait that can be measured in a continuous fashion

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8
Q

can a disease / trait be measured as both qualitative and quantitative?

A

yes → diabetes: is a qualitative disorder, but we can slo measure the level of glucose in the blood

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9
Q

what is one of the mahout public health concerns in the world?

A

obesity

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10
Q

what physiological parameters must be considered when thinking about the cause of obesity?

A

level or hormones, criteria associated with the lifestyle, and molecular phenotypes such as metabolic or genomic features

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11
Q

what is known for sure about obesity?

A
  1. obesity tends to occur within a family - could be genetic or shared environmental factors / lifestyle
  2. about 70% of the variance in BMI is genetic factor-dependent
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12
Q

several loci in other syndromic conditions have been linked to obesity?

A

Prader-Willi and Bardet-Biedl syndrome

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13
Q

what is leptin?

A

an important receptor for the hormone system by which adipose tissue signals its state and regulates appetite (mice with a leptin deficiency were morbidly obese)

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14
Q

what is responsible for controlling the balance between food intake and energy expenditure?

A

hypothalamus

15
Q

what are the two different types of neurons in the hypothalamus?

A

orexigenic neuron and anorexigenic neuron

16
Q

what does an orexigenic neuron control?

A

promotes food intake

17
Q

what does an anorexigenic neuron control?

A

suppressed appetite

18
Q

what is obesity caused by?

A

by an altered perturbation of the balance between orexigenic and anorexigenic neurons

19
Q

in genetic studies to identify loci associated with obesity, what was used?

A

positional cloning

20
Q

what was the issue with the majority of the GWAS studies that have been performed on genes related to obesity?

A
  • a huge amount of data was obtained, but it is important to have a very high number of participants to have a statistically significant result and it is very difficult to conduct a study based on common variance
  • it is necessary to have a well-characterized population, defied in a clear way possibly by the same clinician or at least with the same criteria
  • different populations may have different genetic variations
  • in most cases the GWAS were not able to be validated or replicated
21
Q

what type of variants may be associated to a multifacgtorial disorder, making them hard to identify?

A

rare variants with low pathogenic effect

22
Q

why is it difficult to get a clear characterization of obesity through genetic counseling?

A

we may have different family members with the same phenotype but a lot of different factors may influence that phenotype

23
Q

what is thrombophilia?

A

an abnormal blood coagulation which increases the risk o developing clots at early onset, in atypical sites of the body → opposite of hemophilia (tendency to bleed)

24
Q

what are the main clinical features of thrombophilia?

A
  1. thrombosis at age <45
  2. repeated thrombosis
  3. positive family history for thrombosis
  4. unusual location of thrombus such as cerebral veins, mesenteric veins (abdominal veins), spleen, portal, liver, and kidney
25
Q

what factors play a role in thrombophilia?

A

both environmental and genetic

26
Q

what is genetic disposition in thrombophelia due to?

A

due to alteration on genes that encode for important proteins in the coagulation cascade

27
Q

what is the most important factor in the coagulation cascade?

A

factor X → converted to thrombin which activated fibrinogen into fibrin clots

28
Q

what other two factors besides factor X are important players involved in the coagulation cascade?

A

factor II and Leiden factor (factor V) → are the most important factors associated with the genetic forms of thrombophelia

29
Q

how many genetic types of thrombophelia are there?

A

2

30
Q

describe type I thrombophelia:

A

the most severe form with more frequent thrombotic events

31
Q

what is type I thrombophelia caused by?

A

a deficit of anticoagulants such as antithrombin III, protein C, and S protein

32
Q

what us type II thrombophelia?

A

most common form, caused by the hyperactivation of coagulation factors

33
Q

what factors are associated with type II thrombophelia?

A

factor II, factor V, and MTHFT

34
Q

what type of genetic effects are seen in thrombophilia?

A

additive or multiplicative effects: we have multiplicative effects we have the presence of specific environmental factors coupled with the genetic predisposition

35
Q

what can we do to reduce the risk of thrombophilia?

A

we cannot eliminate the genetic predisposition, but we can modulate the environmental factors to reduce the risk

36
Q

what category does the genetic test for thrombophilia fall into?

A

screening → it can also be performed in completely healthy individuals regardless of symptoms or family predisposition = the identification of the genetic predisposition I very well described and lifestyle changes can be suggested based on the obtained results

37
Q

how is thrombophilia different from other genetic disorders?

A

we have the ability to help control the exhibition of the disease through alteration of the lifestyle and environmental factors

Diagnosis of Genetic Diseases (18 decks)

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