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Part II ISQ Club - Genetics

30 posts in this topic

Part II ISQ Club - Genetics

20 Part II ISQs on two topics will be posted twice a week. You are encouraged to post a reply in the thread, stating whether you think an ISQ is true or false and why (eg. a short explanation, with reference to the textbook you used). Please only deal with one ISQ in each post and include the question as the first line of your post. All ISQs are taken from previous posts by Forum members.

In a few days this ISQ Club thread will be moved to the Question Bank board. If you submit an answer, your status will be changed to 'Question Bank member' and you will be able to see the Question Bank board. Please allow up to 48 hours for this change to happen.

1 Phenylketonuria occurs 1 in 20000

2 Hypomania is common in Down’s syndrome

3 Wilson’s disease is associated with a chromosomal abnormality

4 Visual hallucinations are a defining factor in Charles Bonnet syndrome

5 Angelman’s syndrome is associated with paternal deletion

6 Fragile X has CAG repeats

7 Lesh-Nyhan syndrome is a sex linked disorder

8 Fragile X is a sex linked disorder

9 The effect of the environment is greater on homozygous female twins than on homozygous male twins when adopted.

10 Transcriptosomes are collections of transcribed DNA

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6) Fragile X has CAG repeats

FALSE

Fragile X involves an expansion of the CGG repeats normally in the FMR1 (fragile X mental retardation 1) gene. The CGG repeats are not in a section of the gene that gets edited out (an intron), but rather in a section that is copied and remains after the editing is finished (an exon). Even though the repeat section is part of the finished messenger RNA (mRNA), it doesn't actually get translated into protein.

(Used with permission of

Rob Willemsen, Ph.D., Erasmus University)

Huntingdon's Disease has CAG repeats

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1 Phenylketonuria occurs 1 in 20000

FALSE

Kendell and Zeally put it at 1 in 10000. It is generally accepted to be between 1 in 10000 and 1 in 12000 live births.

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8. Fragile X is a sex-linked disorder

true (Core psychiatry - p162)

Diagnosis can be made in pregnancy

incidence 1 in 1000.

associated behaviours include autistic-type behaviours and hyperactivity

For the very keen, information about each specific human genetic disorder is available online- at http:.ncbi.nlm.nih.gov?Omim/

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http://www.ncbi.nlm.nih.gov/Omim/

above corrected website quoted in previous posting, sorry about that

For easier studying see page 301 of Bird and Harrison, 2001 page 301 for a list of sex-linked disorders

7. Lesch-Nehan is a sex-linked disorder

True

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Angelman’s syndrome is associated with paternal deletion

Statement is FALSE (see table on page 603 of Companion to Psych Studies, 6th Ed, Johnstone et al)

AngelMAn = MAternal source of deletion

Prader-WILLI= Paternal source of deletion

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Visual hallucinations are a defining factor in Charles-Bonnet syndrome

Statement is TRUE (see page 736, Companion to Psych Studies 6th Ed, Johnstone et al)

Charles-Bonnet syndrome associated with visual impairment in elderly, without prominent psychotic symptoms

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Wilson’s disease is associated with a chromosomal abnormality

TRUE

Autosomal recessive, associated with Chromosome 13 abnormality

(Page 122, Exam notes in Psych, Basic sciences, Malhi & Mitchell)

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Hypomania is common in Down’s syndrome

FALSE ( depression appears to be commoner. See Companion to Psych studies, page 607)

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Fragile X has CAG repeats

FALSE

Fragile X due to CGG repeats

Hungtington's disease caused by CAG repeats

Myotonic dystrophy caused by CTG repeats

(Page 210 Exam Notes in Psych, Basic Sciences, Malhi & Mitchell)

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Q.visual hallucinations r a defining feature of charles bonnet syndrome

A. TRUE, REFany textbook, lishman, otp.

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Sorry Medusa, dk2004 beat you to this answer earlier in the thread!

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:-* 10. false A transcriptome is a collection of messenger RNA molecules derived from genes whose protein products are needed by the cell. It is generated by transcription of mRNA :oby DNA dependent RNA polymerase and will vary from cell type to cell type and potentially over the lifetime of the cell or in different environments that the cell encounters.

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2 Hypomania is common in Down’s syndrome

false. can occur, but not common

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3 Wilson’s disease is associated with a chromosomal abnormality

true. C 13

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4 Visual hallucinations are a defining factor in Charles Bonnet syndrome

true

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Q.visual hallucinations r a defining feature of charles bonnet syndrome

A. TRUE, REFany textbook, lishman, otp.

this is true and perhaps you dont need to have definite eye pathology. the hallucinations can vary from illformed figures to clear ly defined patterns.

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The million dollar question? which is not answered is ....

The effect of the environment is greater on homozygous female twins than on homozygous male twins when adopted

Bring on ur answer!:) ???

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9 The effect of the environment is greater on homozygous female twins than on homozygous male twins when adopted.

I have been looking for a while and cant find any answer. Are they talking about the influence of the environment on mental illness, coronary heart disease, personality disorder?

I think the answer is very likely to be false. It is one of these obscure questions written just to confuse us.

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1 Phenylketonuria occurs 1 in 20000 - F

2 Hypomania is common in Down’s syndrome - F

3 Wilson’s disease is associated with a chromosomal abnormality - T

4 Visual hallucinations are a defining factor in Charles Bonnet syndrome - T

5 Angelman’s syndrome is associated with paternal deletion - T

6 Fragile X has CAG repeats - T

7 Lesh-Nyhan syndrome is a sex linked disorder - T

8 Fragile X is a sex linked disorder - T

9 The effect of the environment is greater on homozygous female twins than on homozygous male twins when adopted. - F

10 Transcriptosomes are collections of transcribed DNA - F

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3 Wilson’s disease is associated with a chromosomal abnormality - T

I think it is false.

Ref Oxford handbook of clinical medicine

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5 Angelman’s syndrome is associated with paternal deletion - T

False as it is maternal deletion

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3 Wilson’s disease is associated with a chromosomal abnormality - T

I think it is false.

Ref Oxford handbook of clinical medicine

quite right

for ages this has been incorrectly answered on this forum

it is a genetic abnormality

nothing to do with chromosomes

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Totally agree with the above + i said it somewhere else.. nevermind

Last onein need of answer:

9 The effect of the environment is greater on homozygous female twins than on homozygous male twins when adopted. -

TRUE

Of course this is admitting that the question is looking for genetic suscptibility in twin studies.... my idea is that males will have a greater incidence of X-related disorders hence on the whole have less environmental susceptibility....

I think I'm waffling a bit here...

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