Frequently asked Qs from Genetics and Molecular Biology in MRCP(UK) Part 1

You can expect 5 or 6 questions from these two Nagging subjects.
I will enlist the important concepts from these subjects below ,

1.i know it can be difficult to memorize the chromosomes involved in various imp genetic conditions but for the heck of MRCP 1 you may want to remember at least following diseases and chromosomes affected

NF1 and 2 , Down syndrome , klinfelter's syndrome ,cystic fibrosis , myotonic dystrophy ,ADPKD ,
Turner's syndrome and hemochromatosis.

2.there will be one or two question based on genetic inheritence   mode and Autosomal dominant / mitochondrial inheritence are favorite of MRCP.
They may just ask you about what is the  probability of being affeted
Or they can ask whether the proband will be affected or carrier.
Its tricky but its virtually always featured in exam.

3.you must know about some important phenomena in genetics such as pleiotropy , anticipitation ,imprinting ,
Hetroplasmy.

Qs are usually present as a clinical case such as a 35 years old male patient who is having abnormal jerking movement and also he is having psychomotor abnormalities ,cognitive decline, and patient also tells you that his father had similar symptoms at the age of 50 .you suspect it as Huntington's disease and test for CAG trinucleotide repeat sequence. Meanwhile patient asks you why he has developed this symptoms much earlier than his father???
So  here the answer would be Anticipation.

This is just an example how royal college frame the genetics questions with a clinical flavor.

4.learn well about what kinda blotting we use for DNA ,RNA AND PROTEINS.
Southern and western blot is often asked.

5.get yourself familiar with the immunoglobulins atleast IgA ,IgG and IgM.

6.acute phase reactants are also asked often and ferritin and ceruloplasmin is imp one.

7.Dont waste time on PCR or Immunofluorescence assay or FISH etc .they dont expect you to know a lot about these stuffs.

8.important immunodeficiency conditions such as SCID ,common variable immunodeficiency , wiskot aldrich sundrome are important.

9.G6Pd deficiency is also very frequent
Question.

10.thalasemia and its subtype ie alpha and beta thalassemia can be asked.