08 - 34_Molecular_Genetics

1. Cell cycle

2. Cell division

Meiotic division © SPMM Course Cell cycle Each cell undergoes a natural cycle in terms of its re...

3. Chromosomal Numbers: © SPMM Course  The main differences are the occurrence of synapsis (cros...

Important trisomies/monosomies © SPMM Course Sometimes, non-disjunction can occur during mitosis ...

4. DNA & RNA structure © SPMM Course Assembly’ may be affected more than others. Mathematical abi...

5. Synthesis of DNA, RNA & Protein © SPMM Course sequences that are non-coding (called introns) a...

6. Types of mutations © SPMM Course folded or aberrant proteins to enter lysosomes for destructio...

Some deletion syndromes of psychiatric relevance © SPMM Course is replaced by another purine or a...

7. Mendelian inheritance © SPMM Course Disorder Location and mode of transmission Features DiGeor...

A. Single gene inheritance (Mendelian) disorders

Autosomal dominant disorders © SPMM Course determining white colour and one determining black col...

Autosomal recessive disorders

Sex-linked disorders © SPMM Course penetrance increases the likelihood of having an unaffected ch...

X-linked recessive disorders © SPMM Course X-linked recessive disorders If a recessive disease-ca...

X-linked dominant disorders

B. Non Mendelian inheritance

Mitochondrial inheritance © SPMM Course of the sons will be affected, and half of the daughters w...

Trinucleotide expansions © SPMM Course Leber's hereditary optic neuropathy (LHON) is the commones...

Multifactorial inheritance

Polygenic inheritance

8. Polymorphisms © SPMM Course Multifactorial inheritance It is a complex inheritance in which mu...

9. Cytogenetic techniques © SPMM Course  VNTRs (variable number of tandem repeats). These polymo...

10. Heritability & concordance © SPMM Course known to carry out PCR. It is not error free as labo...

Specific heritability factors © SPMM Course heritability. Non-additive genetic influences include...

11. Hardy Weinberg equilibrium © SPMM Course Bipolar disorder 80 Major depression Generalized an...

12. Types of genetic studies

A. Classical genetic studies:

Twin Studies © SPMM Course 12. Types of genetic studies Genetic methods can be classified into fo...

Family studies © SPMM Course Family studies There are two types of family studies. The family his...

B. Molecular genetic studies

Linkage analysis © SPMM Course Adoption studies Adoption studies are useful to differentiate the ...

LOD Scores © SPMM Course other locus will also be transmitted to the daughter cell. But linked lo...

Whole genome scan

Association studies © SPMM Course the disease this will be detectable as increased allele sharing...

Linkage vs. association

C. Alternative approaches in genetic studies © SPMM Course Linkage vs. association Linkage studie...

13. Psychiatric genetics

A. Causal models © SPMM Course memory defects, information processing defects such as prepulse in...

B. Genetics of Schizophrenia © SPMM Course B. Genetics of Schizophrenia How important is the gene...

C. Genetics of Mood disorders

Bipolar disorder © SPMM Course  Murray et al. (2002) point out a number of studies that have sho...

Unipolar depression (MDD)

Schizoaffective disorder

Molecular associations (Schizophrenia and Bipolar disorder) © SPMM Course Other implicated chromo...

D. Genetics of dementias © SPMM Course been postulated to be associated with decreased neurogenes...

Frontotemporal dementia © SPMM Course ApoE status unknown (general population) 6.3% 12% No Apo 4 ...

Lewy Body dementia

E. Other disorders

Autism © SPMM Course Lewy Body dementia No specific genetic associations have been established fo...

ADHD

Personality disorders

Panic disorder

Social phobia

Alcoholism © SPMM Course  There appears to be as much variability in the phenotypic symptom expr...

OCD © SPMM Course  Majority of adoption studies show that the risk of alcoholism in adopted chil...

14. Clinical genetics © SPMM Course 14. Clinical genetics When an individual approaches a genetic...