GENETICS

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GENETICS

GENERAL FEATURES OF GENES AND CHROMOSOMES

CONTENTS
GENERAL FEATURES OF GENES AND CHROMOSOMES ................................................................................................. 4
GENERAL FEATURES OF GENETICS ............................................................................................................................ 4
GENERAL FEATURES OF CHROMOSOMES ................................................................................................................. 4
BARR BODY ............................................................................................................................................................... 5
GENES........................................................................................................................................................................ 5
ANEUPLOIDY ............................................................................................................................................................. 6
CHROMOSOMES ....................................................................................................................................................... 6
CYTOGENETICS AND DNA RECOMBINANT TECHNOLOGY............................................................................................. 6
GENERAL FEATURES OF CYTOGENETIC STUDIES ....................................................................................................... 6
POLYMERASE CHAIN REACTION................................................................................................................................ 7
RESTRICTION FRAGMENT LENGTH POLYMORPHISM ............................................................................................... 7
DNA FINGERPRINTING .............................................................................................................................................. 8
FLUORESCENCE AND LUMINENCE ............................................................................................................................ 8
KARYOTYPING ........................................................................................................................................................... 9
BLOTTING .................................................................................................................................................................. 9
HYBRIDOMA TECHNOLOGY....................................................................................................................................... 9
GENETIC STUDIES .................................................................................................................................................... 10
CHROMOSOMAL STUDIES ....................................................................................................................................... 10
TRANSGENIC ANIMALS ........................................................................................................................................... 10
GENE INCORPORATION ........................................................................................................................................... 10
RECOMBINANT TECHNOLOGY ................................................................................................................................ 11
GENE THERAPY ........................................................................................................................................................ 11
MODE OF INHERITANCE OF DISEASES ........................................................................................................................ 11
INHERITANCE OF DISEASES ..................................................................................................................................... 11
FEATURES OF INHERITANCE .................................................................................................................................... 12
MITOCHONDRIAL INHERITANCE ............................................................................................................................. 13
GENETIC DISORDERS ................................................................................................................................................... 13
GENERAL FEATURES OF GENETIC DISORDERS ........................................................................................................ 13
REARRANGEMENT OF TRANSCRIPTION FACTORS .................................................................................................. 14
DOWNS SYNDROME............................................................................................................................................... 14
TRISOMY 13 ............................................................................................................................................................ 15
TRISOMY 18 ............................................................................................................................................................ 16

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GENETICS

GENERAL FEATURES OF GENES AND CHROMOSOMES

TRISOMY 22 ............................................................................................................................................................ 16
TURNER SYNDROME ............................................................................................................................................... 16
KLINEFELTER SYNDROME ........................................................................................................................................ 16
NOONAN SYNDROME ............................................................................................................................................. 17
DISORDERS OF DNA REPAIR MECHANISM .............................................................................................................. 17

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GENETICS

GENERAL FEATURES OF GENES AND CHROMOSOMES

KEY TO THIS DOCUMENT

Text in normal font Must read point.
Asked in any previous medical entrance
examinations
Text in bold font Point from Harrisons
text book of internal medicine 18th
edition
Text in italic font Can be read if
you are thorough with above two.

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GENERAL FEATURES OF GENES AND CHROMOSOMES

GENETICS

GENERAL FEATURES OF GENES AND CHROMOSOMES

GENERAL FEATURES OF GENETICS
Human DNA
Polymorphic microsatellite marker also known as
Human genome project is completed in
Hap map project for
Almost all single nucleotide polymorphism
have
Gene rearrangement classically occurs in

3 million base pairs

Short tandem repeats
May 2006
Single nucleotide polymorphism
2 alleles (biallelic)
Immunoglobulin gene

GENERAL FEATURES OF CHROMOSOMES

Components of chromosome
Long and short arms of chromosomes
During mitosis, anaphase is associated
with
Y chromosome
SRY gene located on
Gene coding androgen receptors are located in
Acriflavin Schiff
Quinacrine staining
Increased in Prader Willi syndrome
Maternal disomy of chromosome 15 is seen in
MC mechanism of Prader Willi syndrome
Trisomy rescue is seen in
Prader Willi syndrome is associated with
Features of Prader Willi syndrome
MC mechanism of Angelmann syndrome
If a chromosome divides in an axis perpendicular to its
usual axis of division it is going to form
Transfer of genetic material in 1 meiotic division
between 2 non homologous chromosome
Crossing over
Cross over
Highly condensed chromosome in
Pericentric inversion
Paracentric inversion
Persons with inversion, insertion and
translocation
Deletion is associated with
Telomere mutation is associated with

DNA, histone
Q and p respectively
Separation of sister chromatids to form
chromosomes
Acrocentric
Short arm of Y chromosome
Long arm on X chromosome
X chromosome (Feulgen reaction)
Y chromosome
Ghrelin
Prader willi syndrome
Trisomy rescue
Chromosome 15
Hypotonia, obesity
Short stature, narrow bifrontal diameter
Monosomy rescue
Isochromosome
Translocation
Between non sister chromatid of
homologous chromosome
Pachytene stage of prophase I of meiosis
Metaphase
Involves 2 arms
Involves 1 arm only
Phenotypically normal, increased risk of
miscarriage
Mental retardation
Dyskeratosis congenital, aplastic anemia,
pulmonary and hepatic fibrosis

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GENERAL FEATURES OF GENES AND CHROMOSOMES

GENETICS
Chromosomal instability syndromes

Additional X chromosome is associated

with
Additional Y chromosome is associated
with

Nijmegen syndrome, ICF syndrome

(Immunodeficiency, centromere
instability, facial anomalies), Roberts
syndrome
Low IQ
Aggressive behavior

BARR BODY
Barr body is first detected in
Barr body
Barr body
Barr bodies are demonstrated in
Barr body is found in
Barr bodies are
Barr bodies are NOT seen in
Sex can be established by examining hair root cells for

Brain
Facultative heterochromatism
Buccar smear, saliva, hair follicle
Neutrophils
Interphase
Squamous epithelial cell
Turner syndrome
Barr body

GENES
Gene is
Genes

Gene

Gene whose phenotype is expressed

NOT true about eukaryotic gene
Differential expression of same gene depending on
parent of origin
Functional gene is inherited from one parent
Gene regulating normal morphogenesis during
development
Approximate number of genes in human genome
ALU family
Coding region
Highly repetitive means
Process underlying differences in expression of a gene
according to which parent has transmitted
Small head, minor anomalies of face, growth delay and
developmental delay, NOT have
Punnet square is used to
Methods of fusing two cells in genetic combination
A person showing two cell lines derived from two

Cistron
Smallest functional unit of genome, Promoter and
enhancer genes are typical example, Cistron is single
functional unit
Repressor binds operator gene, Regulator genes
produce repressor subunit, IP TG is inducer but not
substrate, Regulator gene is NOT inducible
Epistatic
Polycistronic mRNA, Non coding Exon
Genomic imprinting
Genomic imprinting
Homeobox gene
20,000 25,000
5-6% of genome
Less than 1.1% of genome
More than 10^6 times
Anticipation
Polygenic syndrome
Predict genotype of offspring
Ethylene glycol, electric current, viral transformation
Chimerism

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CYTOGENETICS AND DNA RECOMBINANT TECHNOLOGY

GENETICS
different zygotes
Atavism
DNA methylation

Single gene defect causing multiple unrelated problems

Inactivation of X chromosome

Child resembling grandparents

Alters gene expression, Genetic code remains intact,
Role in carcinogenesis, Protective mechanism against
cleavage by restriction endonuclease
Pleotropism
Lyonization

ANEUPLOIDY
Primary defect in a structure
Aneuploidy due to
NOT true about aneuploidy
NOT true about aneuploidy
NOT used for detection of specific aneuploidy
Most sensitive sonological indicator for aneuploidy

Malformation
Non disjunction at meiosis
Occurrence of aneuploidy has no relation with
progression of mother age
50-60% of trisomy 18 fetus dies between 12 and 40
weeks
Microarray
Nuchal transluscency

CHROMOSOMES
Chromosome 1
Chromosome 3
Chromosome
Chromosome 5
Chromosome 6
Chromosome 7
Chromosome
Chromosome
Chromosome
Chromosome 13

Steroid resistant nephrotic syndrome (NHS2 podocin)

Clear cell renal carcinoma, VHL gene
Huntingtons chorea
APC gene
Major histocompatibility complex, HLA 6p
Cystic fibrosis
Tuberous sclerosis
Ataxia telangiectasia gene
Darrier disease
Hereditary retinoblastoma - deletion of chromosome
13q14, Wilsons disease, BRCA 2, Friedrichs ataxia
BRCA 1, P53
Edwards Syndrome
Myotonic dystrophy, JAK, NPHS1 finnish type (nephrin),
Peutz Jegher syndrome
Prion disease
Down syndrome, Gene for folate carrier protein

9
11
12

Chromosome 17
Chromosome 18
Chromosome 19
Chromosome 20
Chromosome 21

CYTOGENETICS AND DNA RECOMBINANT TECHNOLOGY

GENERAL FEATURES OF CYTOGENETIC STUDIES
Test using oligomer with single base pair substitution
Linkage analysis

RFLP
Detection of characteristic DNA polymorphism in a

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