Genetic Defect

This forum made possible through the generous support of SDN members, donors, and sponsors. Thank you.

sacjumpman

Full Member
10+ Year Member
15+ Year Member
Advertisement - Members don't see this ad
Should we be familiar with the modes of inheritance of many of these genetic defects:

Klinefelter's
Turner syndrome
Duchenne's

Hemophilia- prob. should know this one

Tay-Sach's

sickle-cell - prob. should know this one

Cri du chat syndrome

Huntington's disease.

Not really a big deal to know them, if the veterans think we should.
Thanks in advance.
 
Yeah! I think those genetic defects are "high yield" topics. Just know the general mode...I think that would suffice.

Cliffs AP Bio does an excellent job w/ a table to summarize those diseases.
 
Yeah! I think those genetic defects are "high yield" topics. Just know the general mode...I think that would suffice.

Cliffs AP Bio does an excellent job w/ a table to summarize those diseases.

Yeah. Just the man I was hoping would answer. 😉

Thanks Poc. I was looking at Cliff's as I wrote those.

Funny, though cause Schaum's doesn't really mention them (I haven't finished the whole thing though). But the two books complement each other pretty well though, IMO.

What bio textbook was it that you used for studying? Was it Campbells? I thought I remember you saying another one you liked.... Just curious, I've been reading campbell's ALOT, but only thoroughly memorizing Cliffs.
 
Advertisement - Members don't see this ad
Yeah! I think those genetic defects are "high yield" topics. Just know the general mode...I think that would suffice.

Cliffs AP Bio does an excellent job w/ a table to summarize those diseases.
which table? I cant find it ..i looked under heredity and molec genetics
 
for those of us that don't have that book what does the table say, just the disease and the mode of inheritance?
ex: hemophilia and sex linked recessive?

Hemophilia - X-linked Recessive - Do not produce clotting factor that cause extreme bleeding.

Phenylketonuria - Autosomal Recessive - Cannot break down phenylalanine cause ******ation if not treated by strict diet.

Sickle cell anemia - Autosomal Recessive - Red blood cells take on sickle cell shape and cannot efficiently distribute O2 to the tissues.

Tay Sach's Disease - Sex linked Dominant - Do not produce specific muscle protein that causes loss of coordination and muscle dystrophy

Klinefelter Syndrome - Nondisjunction of sex chromosomes - XXY, male. Sterile and often mentally ******ed.

Turner Syndrome - Nondisjunction of sex chromosomes - XO, female.

Huntington's Disease - Autosomal Dominant - Sets on at middle age. Starts off as mild mental illness and progresses to be completely debilitating

Red green colorblindness - Sex linked recessive - Cannot distinguish between red and green

Cri du chat Syndrome - deletion of chromsome 5 - cause cat like cry and mental ******ation

Down Syndrome - Nondijunction of chromosome 21 - Mental ******ation.

Those are off the top of my head, so if I'm wrong, just correct me. But that is the whole chart.
 
I have a question:

I know this has been discussed recently, but I looked it over:

For Down's syndrome, can nondisjunction happen at either meiosis I or II?

It seems like either way you will end up with three copies of chromosome 21 in the zygote, albeit in 1 case, 2 of the chromosomes will be identical (i.e. nondisjunction at Meiosis II).

Just a thought I can't seem to remember from genetics, and don't feel like searching for right now.
 
Advertisement - Members don't see this ad
I have a question:

I know this has been discussed recently, but I looked it over:

For Down's syndrome, can nondisjunction happen at either meiosis I or II?

It seems like either way you will end up with three copies of chromosome 21 in the zygote, albeit in 1 case, 2 of the chromosomes will be identical (i.e. nondisjunction at Meiosis II).

Just a thought I can't seem to remember from genetics, and don't feel like searching for right now.
yes it could be either or
 
what if non-disjunction occurs at both anaphase of meiosis I & II (if possible)...would it result in klinefelter syndrome?

1 more question...this might be stupid. A male with extra X chromosome is called klinefelter ...is it possible to have extra Y? If yes what is it called? I havent read in any of the chapters in cliff's or kaplan. I dont remember we dicussed this in genetics. i guess it will be just one type of aneuploidy. Lol sorry if its stupid...but just curious
 
what if non-disjunction occurs at both anaphase of meiosis I & II (if possible)...would it result in klinefelter syndrome?

1 more question...this might be stupid. A male with extra X chromosome is called klinefelter ...is it possible to have extra Y? If yes what is it called? I havent read in any of the chapters in cliff's or kaplan. I dont remember we dicussed this in genetics. i guess it will be just one type of aneuploidy. Lol sorry if its stupid...but just curious

http://en.wikipedia.org/wiki/XYY_syndrome

Super male syndrome. There may be a correlation between those men in prison with a higher on average rate of having this syndrome. I remember that one from class.
 
Yeah. Just the man I was hoping would answer. 😉

Thanks Poc. I was looking at Cliff's as I wrote those.

Funny, though cause Schaum's doesn't really mention them (I haven't finished the whole thing though). But the two books complement each other pretty well though, IMO.

What bio textbook was it that you used for studying? Was it Campbells? I thought I remember you saying another one you liked.... Just curious, I've been reading campbell's ALOT, but only thoroughly memorizing Cliffs.

Yeah, I think Schaum's is a bit overrated. Just go w/ cliffs for the holistic review, and to check up on topics not covered in the other guides you're using.

For reference, I used campbells and an undergraduate A and P book. Both were very helpful
 
nondisjunction1.gif



nondisjunction2.gif



nondisjunction3.gif