IMPORTANT POINTS FOR MCQS AND VIVA OF GENETICS

Pathology Dept. LMDC

For 3rd year MBBS & 2ND year BDS by Dr.Fauzia Sadiq

1. Mutation is defined as a permanent change in the DNA.

2. Marfan’s syndrome is a disorder of the connective tissue of the body, characterized by

changes in the skeleton, eyes and cvs. Mainly cause by defects in an extracellular
glycoprotein Firbillin-1.

3. Ehlers-Danlos Syndrome comprise a clinically and genetically heterogenous groups of

disorders that result from some defect in the syntesis or structure of fibrillar collagen.

4. Amyloid is a pathologic proteinaceous substance deposited between cells in various

tissues and organs of the body in a wide variety of clinical settings.
Major autosomal dominant disorders include: Skeletal – Marfan; syndrome
Nervous – Huntington disease,neurofibromatosis
Gastrointestinal – familial polyposis coli
Urinary – polycystic kidney disease
Haematopoietic – hereditary spherocytosis

5. Point mutations are often caused by chemicals or malfunction of DNA

replication, exchange a single nucleotide for another e.g RAS.

6. Giant cells are cells containing more than one nucleus.

7. Major giant cells are : Langhan giant cells – Tuberculosis,Tuton giant cells – xanthoma
Warthin finkeldey giant cells – measles,Reed Sternberg cells – Hodgkin Lymphoma,
Foreign body giant cells – foreign body
8. ABL gene is seen translocated in CML.
9. Ionizing radiation leads to dysjunction à random fusion à mutation.

10. Exposure long term of radiations lead to leukemia and thyroid cancers.
11. Down syndrome is also an example of aneuploidy. It is caused by the trisomy is the
nondisjunction of chromosome 21. It usually causes mental retardation that can be mild
or even severe.
12. Cri-du-chat syndrome (condition as a result of a deletion of a piece of chromosome 5)
and 22q11.2 deletion syndrome are examples of deletions that occur in the
chromosomes.
13. A chromosomal mutation is a mutation involving a long segment of DNA. These
mutations can involve deletions, insertions, inversions, or translocations of sections or
segments of DNA. In some cases, deleted portions may attach to other chromosomes,
disrupting both the chromosomes losing the DNA and the one gaining it.
14. The most common types of aneuploidy are monosomies, when only one chromosome of
a pair is present, and trisomies, when there are three copies of a chromosome instead
of a pair.
 IMPORTANT POINTS FOR MCQS AND VIVA OF GENETICS
Pathology Dept. LMDC
For 3rd year MBBS & 2ND year BDS by Dr.Fauzia Sadiq

15. Mosaicism occurs when a person has two or more genetically different sets of cells in
his or her body. If those abnormal cells begin to outnumber the normal cells, it can lead
to disease that can be traced from the cellular level to affected tissue, like skin, the
brain, or other organs.

Sr. no MUTATION DEFECTS Examples

1 Point mutation Sickle cell disease
2 frame shift mutation Cystic fibrosis
3 Trinucleotide repeat disorder Huntington's disease (HD)
4 Deletion Criduchat syndrome
- -
(5p ),retinoblastoma (13q )
5 insertion Fragile X syndrome, One form of
beta-thalassemia
6 inversion haemophilia
7 Translocation (8;14) translocation in Burkitt's
lymphoma
(9:22)Chronic Myeloid Leukemia
8 Robertsonian translocation Down syndrome on chr 21
8 DUPLICATION Pallister Killian syndrome
9 Base substitution Sickle cell anemia
10 Aneuploidy trisomy 21 and XYY Klinefelter's
Syndrome
11 multifactorial disorders High blood pressure and high
cholesterol, Diabetes,Alzheimer
disease,Schizophrenia,Arthritis.