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RosyWood

Gene Genie

20 posts in this topic

I'm fed up of revising, so I thought I'd put this little aide memoire up on SEC, then I get to use lots of pretty colours and mess around for ages. I don't know how useful it will be for us guys, actually, so I might post it over on the paper 2 threads as well, as they seem to be suffering genetically for their art...

The code is:

dementias

psychosis/ affective

asd

LDs

So here goes:

Group A

Chromosome 1

Presenilin 2 (Alz)

DISC-1 (Scz & BAD)

DISC-2 (Scz)

RGS-4 (Scz- interacts with neuregulin)

Chromosome 2

2q- assoc with autistic spectrum disorder

Chromosome 3

nothing!

Group B

Chromosome 4

Huntingdon's Disease (CAG trinucleotide repeat-4p)

Wolf-Hirschlorn 4p

Chromosome 5

Cri-du Chat (terminal deletion 5p)

Group C

Chromosome 6

Dysbindin(Scz-6p)

PREP (mood disorder 6q)

Chromosome 7

7q assoc with ASD

Williams syndrome (microdeletion)

Chromosome 8

Neuregulin-1 (Scz & BAD- 8p)

Chromosome 9

Tuberose Sclerosis I

Chromosome 10

Nothing!

Chromosome 11

Brain-Derived Neurotrophic Factor (BAD-rapid cycling 11p)

Chromosome 12

assoc with trait neuroticism

Group D

Chromosome 13

Patau's syndrome (trisomy)

Wilson's disease (ATP7B)

DAO-A (Sch & BAD- 11q)

Chromosome 14

Presenilin 1 (Alz D)

Chromosome 15

Prader-Willi (paternal microdeletion)

Angelman's (maternal microdeletion)

Group E

Chromosome 16

assoc with ASD-16p

Tuberose Sclerosis II

Chromosome 17

Assoc with familial frontotemporal dementia

Smith-Magenis-17p

Neurofibromatosis 1 -17q

Chromosome 18

Edward's syndrome (trisomy)

Group F

Chromosome 19

ApoE (Alz & Vasc)

Notch 3 (CADASIL)

assoc with ASD

Chromosome 20

PrP (inherited CJD)

Group G

Chromosome 21

Amyloid Precursor Protein (Alz)

Down's Syndrome (trisomy)

Chromosome 22

Neurofibromatosis 2

DiGeorge Syndrome (velocardiofacial)

COMT (Scz & BAD)

X/Y

Fragile X

Lesch-Nyan (purines)

Turners XO

Klinefelter's XXY

Please proof-read and let me know any mistakes/ omissions!

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Great Great

Thanks very much.

I shall try to rote learn this list. Rote Learning is the best way of learning.

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Brilliant Ross. Thank You :)

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22 q 11 , no doubt is associated with Velocardiofacial syndrome, but is also associated in pathogenesis of Neurofibromatosis type II.

Deletion of 22 q11 causes VCFS whereas mutation at 22 q 11 causes neurofibromatosis II and acoustic neuroma.

http://en.wikipedia.org/wiki/Neurofibromatosis_type_II'>http://en.wikipedia.org/wiki/Neurofibromatosis_type_II

On the other hand Neurofibromatosis Type-1 is caused by a mutation of a gene on the long arm of chromosome 17 .

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

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brilliant job Ros... !!!

i guess u were very bored and had nothing better to do when u compiled that list... :D

but all of us are very grateful to u for that...

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Wow, many thanks Ros,....although i feel its still probably too much for my brain to take in.

If i fail, Neuro will be my nemesis.

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[highlight]Please proof-read and let me know any mistakes/ omissions!

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O My God, where are these difficult names coming from?

Smith Magenis syndrome

Never heard of it before; my ignorance.

Thanks Eeyore

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O My God, where are these difficult names coming from?

Smith Magenis syndrome

[highlight]Never heard of it before; my ignorance. [/highlight]

Thanks Eeyore

probably the only one u havent heard!!!!!! :D

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Thanks Kamran and Eeyore- duly updated.

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Small additions

Group A

Chromosome 1

Presenilin 2 (Alz) inherited form of Alz carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains

DISC-1 (Scz & BAD)

DISC-2 (Scz)

RGS-4 (Scz- interacts with neuregulin) regulates G protein signaling

Chromosome 2

2q- assoc with autistic spectrum disorder

Chromosome 3

nothing!

Group B

Chromosome 4

Huntingdon's Disease (CAG trinucleotide repeat-4p)

Wolf-Hirschlorn 4p deletion of the short arm of chromosome 4, particularly in the region of WHSC1 and WHSC2 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived.

micro cephaly , typical facies

Chromosome 5

Cri-du Chat (terminal deletion 5p) cat like cry microcephaly MR

Group C

Chromosome 6

Dysbindin(Scz-6p)

PREP (mood disorder 6q)

Chromosome 7

7q assoc with ASD

7q 11.2 Williams syndrome (microdeletion) elfin facies ELN gene affected hence the haploin insufficiency causing the supra aortic stenosis

Chromosome 8

Neuregulin-1 (Scz & BAD- 8p)

Chromosome 9

Tuberose Sclerosis I

Chromosome 10

Nothing!

Chromosome 11

Brain-Derived Neurotrophic Factor (BAD-rapid cycling 11p)

WAGR 11q 13 wilms tumor, aniridia, genitourinary problems,MR genes inv are WT1 and PAX6

Chromosome 12

assoc with trait neuroticism

Group D

Chromosome 13

13q G72/30 (BPAD+Schizophrenia)

Patau's syndrome (trisomy)

Wilson's disease (ATP7B)

DAO-A (Sch & BAD- 11q)

Chromosome 14

Presenilin 1 (Alz D)

Chromosome 15

Prader-Willi (paternal microdeletion) or maternal uniparental disomy

Angelman's (maternal microdeletion)

Group E

Chromosome 16

assoc with ASD-16p

Tuberose Sclerosis II

Chromosome 17

Assoc with familial frontotemporal dementia

Smith-Magenis-17p Smith Magenis syndrome -- deletion of short arm Chr 17

Neurofibromatosis 1 -17q

Chromosome 18

Edward's syndrome (trisomy)

Group F

Chromosome 19

ApoE (Alz & Vasc)

Notch 3 (CADASIL)

assoc with ASD

Chromosome 20

PrP (inherited CJD)

Group G

Chromosome 21

Amyloid Precursor Protein (Alz) APP is best known and most commonly studied as the precursor molecule whose proteolysis generates amyloid beta (A[ch946]), a 39- to 42-amino acid peptide whose amyloid fibrillar form is the primary component of amyloid plaques

Down's Syndrome (trisomy)

Chromosome 22

Mutation at 22 q 11 causes neurofibromatosis II and acoustic neuroma.

Deletion of 22 q11 causes VCFS whereas DiGeorge Syndrome (velocardiofacial)

COMT (Scz & BAD)

X/Y

Fragile X

Lesch-Nyan (purines)

Turners XO

Klinefelter's XXY

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are genetics related questions asked often in paper3 :)

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hmm not that i know off ....???!!!!!

:)

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