Genetic Diseases...

[CBG23]

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Is it necessary to know the pattern of inheritance for the various genetic diseases (autosomal dominant vs recessive vs X-linked, etc.)?

 

[bbydoc]

Is it necessary to know the pattern of inheritance for the various genetic diseases (autosomal dominant vs recessive vs X-linked, etc.)?

hell yeah!

 

[bbydoc]

but in general, whenever you are in doubt, if the problem is related to enzymes (enzyme deficiency) PKU etc it is autosomal recessive.
If it is a structural problem (Marfan's) it is dominant.
there are not many x-linked ones.

 

[Rollo]

but in general, whenever you are in doubt, if the problem is related to enzymes (enzyme deficiency) PKU etc it is autosomal recessive.
If it is a structural problem (Marfan's) it is dominant.
there are not many x-linked ones.

I did not know this. Thank you!

 

[kstreet]

Do we have to know what chromosome it's on?

 

[bbydoc]

Do we have to know what chromosome it's on?

for stuff like turner's, klinefelter's, edward's syndrome you obviously need to know that.

and also in general for genes like p53, APC, Rb, Im afraid we have to bite the bullet there.
it is a fair game, to ask for the gene locations here. if you consider the increasing importance of gene-mapping, genetic diagnostics, targeted chemotherapy, you should know that it is likely that they will test you on gene locations.

 

[turkeyjerky]

Do we have to know what chromosome it's on?

obviously for chromosomal diseases (downs, etc) the answer is yes. However, I disagree with some of the other people here, that, despite it being in first aid, it's not necessary to memorize the location of genes like p53, APC, and stuff like that. I don't think I saw any questions on either NBMEs or the real deal where that info was required.

A lot of people maintain that you do have to memorize that stuff; I think they base that on first aid or practice questions that go a little overboard. You're better off spending some extra time on helminths or behavioral milestones (low yield topics that you're guaranteed to have one question on).

 

[IMGUSMLEStep1]

Is it necessary to know the pattern of inheritance for the various genetic diseases (autosomal dominant vs recessive vs X-linked, etc.)?

you only need to know the important ones.