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Download PG Medical 2nd Year Pathology Genetics Handwritten Notes

Download PG Medical ( Post Graduate Medical degree) 2nd Year Pathology Genetics Handwritten Notes

This post was last modified on 02 August 2021

NEET PG Last 15 Years 2012-2025 Previous Question Papers with Answers (Solved Question Papers)


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Genetics

Genes

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Coding: Exons ? 1.5% of Human genome

Non-Coding - INTRONS

Regulation of genes

  1. Centromeres
  2. Telomeres
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  4. Trans beans (Jumping genes)
  5. Non-Coding RNAs
  1. Micro RNA - miRNA - 21-30 oligonucleotide
  • gene silencing RNA (post-Transcription)
  • 15% of human genome
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  • siRNA (small interfering RNA)
    • exogenous RNA (in vitro)
    • To study gene function - knock down technique
  • LINC-RNA - Long intervening non coding
    • >200 nucleotide.
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    • associated with Barr-Body formation

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    d) lnc-RNA - Noncoding RNA in Human genome

    wi-Interacting

    Genetic disorders

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    Single gene (Mendelian)

    Multigene

    Classic

    Unclassic

    -multifactorial inheritance/

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    Complex polygenic.

    AR

    1) gonadal mosaicism

    (>2mutant genes + environmental factors)

    AD

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    XR

    1) mitochondrial inheritance

    eg- Diabetes

    Cleft lip/palate

    XD.

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    iii) genomic imprinting - Congenital Heart disease.

    1) Trinucleotide Repeat - Gout / HTN

    -m/c pattern of inheritance - Autosomal dominant (Vertical)

    - m/c pattern in inborn error of metabolism - AR - (Horizontal)

    AR

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    AD

    Aa - Carrier

    Aa- disease

    aa - disease.

    aa-disease (die in utero)

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    AD

    AD

    ?) Reduced Penetrance,

    eg- Retinoblastoma

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    ch-13q/14

    Ro-Two Hit Hypothesis - Homozygous

    Loss of Heterozygosity = LHO. LOH

    1st Hit- germline Hit

    Knudson's Two Hit

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    2nd Hit- acquired Hit

    LOH:

    AD-PKD

    Hirschsprung's disease

    Wilm's Tumor

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    Retino Blastoma.

    11) Dominant Negative effect.

    eg Mutant-protein/gene

    affecting/ N genes / proteins

    MT/C inherited Connective tissue disorder - Marfan's Syndrome

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    Fibrillin gene C15q

    Revised Ghents Criteria:

    1) Family h/o Marfans

    ii) Cardinal features

    ?) Fibrillin gene-Imutation

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    M/C Aortic dissection.

    1) Ehlers Danlos Syndrome - Rubberman Syndrome.

    Hyperextensibility of joints + Skin Hyperextensibility

    Collagen m/c collagen-?

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    m/c Subtype of EDS-Type-?

    ? Rupture of colon/arteries - Type ? [Vascular type]

    Worse prognosis - Type-?

    I/?- Scarring affected. Cigarette paper Like Scarring

    3) Osteogenesis imperfecta Collagen-I

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    Pedigree analysis-

    - x-linked Recessive Carrier - Divorce

    -Proband /Index Case - Infertility.

    - deceased /dead

    - unknowngender

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    - emotional attachment.

    Hermaphrodite

    extramarital affair

    - miscarriage/abortion

    Adopted child

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    - No. of siblings.

    -monozygotic.

    - Dizygotic

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    Ledigree analysis

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    - Both parents normal,

    one/variable, child affected

    undassic inheritance

    Gonadal mosaicism - Variant of Autosomal dominant

    mutation occur in zygote level

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    eg. Osteogenesis Imperfecta, Tuberous Sclerosis

    Achondroplasia

    Mitochondrial inheritance (Maternal inheritance)

    ovum - Rich in mitochondria

    mtDNA

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    Heteroplasmy

    Normal

    mutant

    when mutant allele, normal ? disease cum

    Sperms also contain mt-DNA - selectively degraded

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    during fertilization

    ubiquitin proteasome pathway

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    diseases through mitochondrial Prter

    ? Leber's Hereditary optic neuropathy- Prototype

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    ? NARP. - Neurogenic weakness

    Ataxia

    Retinitis Pigmentosa

    Retinitis pigmentosa m/c/pattern of inheritance

    60% Sporadic 40% Hereditary

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    (AR(60%) 30-40%. AD Digeni

    X-linked Recessive

    ? x-chromosome of father transmitted to daughter only

    mostly males are affected

    ?Females also affected when Carrier mother + affects father

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    Y-chromosome. Y linked Disorders

    -only males are affected: Retinitis pigment

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    Fragile X Syndrome XLR (m/c)

    ? Hemophilia - A/B-XR Hemophilia-C/t AIR!.

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    X Linked dominant

    Father

    all daughters

    Sons spared.

    from affected daughters

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    Sons Daughters

    Alports - 85% X linked Dominant

    m/c

    Autosomal Recessive-

    Affected-0%

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    Carrier-50%

    Galactosemia AR

    Uniparental Disomy - one parent giving both genes.

    Not Carrier Normal

    mechanism

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    Affected-1

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    imprinting-inactivation

    ? Functional gene inherited from parent only

    Chromosome-15q

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    Prader-Willi Angelman

    -Obesity -Ataxia

    -Hypogonadism -Laughter

    Ghrelinexogenic Happy Puppet

    m/c i) deletion

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    ?) uniparental disomy.

    maternal Paternal

    gene gene Angelman

    Prader-Willi

    UDPassociations. ?) Angelman

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    ?) Prader-Willi

    ?) Russel - Silver

    iv) Bloom - Ruare (m/c-AR)

    v) Beckwith-Weidman (UPD of WT-11p11

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    Sinucleotide Repeat

    Codons-normally, Triplets - Repeat normally

    Times-29 (6-55)

    55-200- Premutation - asymptomatic

    >200 Repeats - Disease

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    No. of Repeats correlate with severity of disorder.

    No. of Repeats Severity

    Dynamic mutation - No. of Repeats - gain of mutation

    Oogenesis Spermatogenesis

    affecting Noncoding Coding areas

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    areas- exons

    eg-1) Fragile-x-Syndrome 1) Huntington's chorea

    2) Friedreich's ataxia 2) Spino Cerebellar ataxia

    3) Myotonic Dystrophy

    Huntington's Disease Father ? 300 Repeats

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    Anticipation Son - Repeats

    Severity, (earlier age); Severity.

    years- earlier next generation - earlier onset

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    ? X-Chromosome shows fragile site when grown

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    on folate deficient medium

    Large Testis (macio Orchidism) > NTR [Hallmark]

    Large face Small / Normal-nose

    mandible

    everted ears

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    KARYOTYPING

    ?Study of chromosome

    ? paired chromosome

    length.

    Sample-?) Amniotic fluid - shedding of epithelium

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    (skin, UGGT, GIT, RCT)

    ii) Chorionic villi Biopsy

    iii) Fetal tumor Sample. m/c-fetal tumor - Teratoma.

    iv) Cordocentesis-umblical Cord Blood

    1) Peripheral blood - lymphocyte

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    other cells reversed - dont pudifuate

    In Test tube

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    Fixative of choice

    Cornoy's Fluid

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    Karyotyping - Methanol + glacial acetic acid

    3parts + 1part

    Histopathology - 10/- neutral buffered Formalin

    Colectron microscopy glutaraldehyde Best

    Osmium Tetraoxide

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    Cytology 95% Cothanol (cytology)-pap Smear

    Hematopoietic cells mercuric Chloride - Zanker's fluid

    Preic acid - Bouin's fluid Glycogen/Lipid storage

    disorders

    Testicular biopsy Bouin's fluid-ideal (preserves and

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    Routine Karyotyping neutral buffer formalin - universal

    Cells

    Proliferate in Test

    metaphase arrest Colchicine

    Resolution - 800 bands/ Haploid set

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    To increase Resolution prophase arrest of

    Resolution - 1500 bands

    Routine Cytogenetic analysis Light micro Reduction 5ml

    of chromosome

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    P(shat)

    P-petit

    Types of chromosomes

    i) Metacentric p q. Rest all chromosomes metacentric

    ii) Sub-MATA centric - X-chromosome

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    iii) Acro-centric - Y-chromosome

    i) associated with pathogenesis

    Down Syndrome - Robertsonian Translocation

    t 21 13

    14

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    All aw Acrocentric chromosomes

    Auccentric group - 21/13,14,15, 22/7

    iv) Telocentric -not-seen in Humans

    normal division vertical

    Irto normal axis- Horizontal plane

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    Isochromosome (i)

    m/c Isochromosome - Xq-xlong arm

    m/c in Human Cancer - 17q, (i)

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    ovary Testis

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    917q - m/c cytogenetics in Medulloblastoma

    Posprognosis

    Uses of Karyotyping

    1) Numerical disorders

    Jouploid - 23x

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    Aneuploidy-odd

    m/c Chaomosomal disorder - Trisomy 16 (But die in utero)

    m/c chromosoma disorder Down Syndrome

    Limitations - ?) microdeletion

    ?) Amplification cannot be

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    (iii) Complex Translocation seen

    FISH can overcome this

    Best for brown gene FISH - Limitation-Cannot

    detect Small genes.

    For point mutation - PCR Limitation - Cannot

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    detect lager genes.

    NTLPA- Multiplex Ligation Associated Probe Amplified

    - overcome limitations of both PCR FISH

    - Both Small & lauge genes

    - Best for Cystic fibrosis detection

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    Mech-i) Meiotic-Non-disjunction

    95%

    trisomies, except for. Edward Syndrome - Meiosis ?

    Rocker Bottom feet - more Edward Syndrome

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    extrachromosome in Down's Maternal in origin

    ii) Robertsonian - 4% No Relation with advanced maternal age

    iii) Mosaicism - 1%

    Robertsonian Mosaicism

    t 21 13,14,15;22. Normal + abnormal no. of

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    t (21;21) -100% chance stransit-chromosomes.

    of 2nd Baby

    ALL- m/c leukemia associated with Down's

    ANTLITY - Acute Megabaujocytic. m/c leukemia in children

    >40 years - Alzheimer's -100/

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    <3 years.

    m/c Cardiac defect - endocardial cushion defect >VSD >ASD

    Turner's Syndrome ?) 45 XO m/c

    ?) 46 X(Y) (Ring chromosome)

    iii) 46 EXP

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    ovarian Tissue

    Histology Breast Tissue, Normal

    m/c Cardiac. Bicuspid aortic valve

    Tumors 9) Colon Ca AML - Downs

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    ?) AML. Tunes

    Klinefelter Syndrome.

    Trisomies. 22x and ly

    47xxy -meiotic nondisjunction (meiotic 7

    Associated with both Advanced Maternal Paternalay

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    Testosterone ; 17SH, oestrogen.

    gynaecomastia

    m/c Cancer Breast Cancer

    m/c germ cell tumor - Extragonadal > gonadal

    Teratoma

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    m/c site -m edrastimum

    m/c Site EGCT in Brain - pineal gland

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    variation among individuals

    15-million Base pairs

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    - polymorphic genes /mauku genes can detect

    multifactorial Junknown gene mutation,

    1) always dose to disease causing allele.

    ?) disease

    Polymorphic genes always stably transmitted to next generation.

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    Linkage - Disequilibrium

    motype of polymorphic gene - SNP-Single nucleotide Polymorph

    - inucleotide difference /1000 base pairs

    ?) Repeat length polymorphism

    a) microsatellite Madosaledlite

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    Q(2-6) Base 15-70 Base Q

    Pair repeats. Pair repeats

    Uses

    Single gene

    multifactorial

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    Direct Sequencing Polymorphic genes

    with PCR/FISH -Indirect Sequencing

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    study of polymorphic gene

    for a disease in family

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    Large Population : GIWAS (genome wide Analytical Study)

    To detect Same chromosome - Tumor gene/Normal gene

    T gene Normal gene

    Patient Control (entire chromosome)

    gene

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    Fluorochrome. Red Green

    Hybridization

    Fluorochrome Red Signal-Duplication (guin)

    Scanner Green Signal - Deletion (Loss)

    Computer Normal chromosome - Yellow/Black

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    Yellow/Black. NTPoroarray Analysis

    NTPoro Array based Comparative, genomic

    Hybridization CGH

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    Breast Cancer

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    ERT; PRtve; Her. neu

    1. gene expression profiling
    2. molecular classification of Cancer

    ? Molecular classification of Breast Ca based on gene

    expression profiling

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    FISH Congenital malformation-metaphase

    Oncological Specimens. Inbsphase chromosome)

    2 variants) 1) Chromosomal painting Centire human genome

    on same chromosome) Hist

    fluorochrome pointed on entire genome of

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    one chromosome

    2) Multicoloured FISH: entire genome on all gen chromosome

    Spectral Karyotyping, simultaneously

    Spectacularly to fluorochromes Computer generalized

    Immunology

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    Immunity

    Innate Acquired

    - Birth/1st line of defence -memory

    -Nomemory -Specific

    -Non-Specific

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    This download link is referred from the post: NEET PG Last 15 Years 2012-2025 Previous Question Papers with Answers (Solved Question Papers)

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