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56 Cards in this Set
- Front
- Back
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Gold standard PCR technique |
Sanger's technique |
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PCR technique for known locus (exact codon) study JAK2V617F BRAFV600E |
SBPE single base primer extension |
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PCR technique used in case of low tumour yield |
Pyrosequencing |
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Genetic sequencing for low tumour yield or a contaminated sample |
Next generation sequencing better than pyrosequencing |
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PCR technique used for lengthy DNA eg. Fragile X syndrome (CGGCGG...) |
Amplicon length analysis |
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PCR technique used for RNA virus eg. COVID |
RT PCR Reverse transcriptase |
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PCR technique used for quantitative analysis |
rT PCR real time COVID |
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Nucleotide repeats in fragile x syndrome |
CGG |
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Nucleotide repeats in myotonic dystrophy |
CTG |
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Nucleotide repeats in Freidrich's ataxia |
GAA |
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Nucleotide repeats in Huntington's ds |
CAG Hunting in a CAGE |
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Genetic disorder in which mutation occurs in exon |
Huntington's ds |
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Most specific feature of fragile X syndrome |
Bilateral enlarged testes |
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Features of fragile X syndrome |
Enlarged testes/ gonads Facial abnormality - long face Large forehead Large ears Large mandibles Intellectual disability Autism spectrum ds |
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Southern blotting done for |
DNA |
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Western blotting done for |
Proteins |
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Eastern blotting done for |
Post transcriptional modifications |
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If PCR fails in fragile X syndrome which technique is applied for study |
Southern blotting |
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PCR technique used in association studies/ PSM related |
Genome wide association studies |
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Name the type of inheritance in which affected fathers do not have affected children but affected mothers always have affected children |
Mitochondrial inheritance |
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Mitochondrial functional ds - examples |
MELAS Ocular involvement NARP syndrome CPEO chronic progressive external ophthalmoplegia LHON Leber's hereditary optic neuritis Leigh syndeome Pearson syndrome Kearn Sayre syndrome |
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NARP syndrome |
Mitochondrial functional ds Neurological & ocular manifestations NARP - peripheral Neuropathy Ataxia Retinitis Pigmentosa |
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MELAS |
Mitochondrial ds Mitochondrial encephalopathy Lactic Acidosis Stroke like neurodeficits |
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Pearson syndrome |
Mitochondrial ds in a child Pancreatic Exocrine insufficiency Anemia Ring Sideroblasts If progresses to teenage - Kearn Sayre syndrome |
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Leigh syndrome |
.. |
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MERRF syndrome |
Mitochondrial ds Myoclonus Epilepsy Red Ragged Fibres in muscle biopsy Electron microscopy - 1. Phonographic record appearance 2. Parking lot appearance |
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Muscle biopsy |
MERRF syndrome Red ragged fibres |
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MERRF syndrome |
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Gene associated with transformation of immature B cell to mature B cell |
BTK Bruton associated tyrK |
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Genetic ds associated with BTK gene mutation |
Bruton's hypogammaglobulinemia Immature B cells cannot form mature B cells Hypoplastic germinal centres in lymph nodes Boys |
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Gene associated with transformation of mature B cell to plasma cell |
BAFF |
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Genetic ds associated with BAFF gene mutation |
CVID common variable immunodeficiency syndrome |
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Which cells are affected in CVID common variable immunodeficiency & features |
Both B&T cells BAFF mutation M = F Hyperplastic germinal centre |
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ICOS gene mutation is associated with |
T cell deficiency only |
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Most common type of SCID |
Overall - XLR M/C in autosomal recessive - ADA deficient variety |
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Genetic defects & cell defects in SCID & enzyme deficiency |
X linked recessive type - defect in gamma subunit of cytokine Rc
Autosomal recessive type - ADA deficiency JAK 3 defect RAG 1,2 defect Bcell T cell NK cell Adenosine deaminase |
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Morbiliform rash in face is associated with |
SCID |
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Gene therapy was first applied in which ds |
SCID |
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Genetic defect in bare lymphocyte syndrome |
MHC II |
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Genetic defect in Di George syndrome |
Deletion of 22q11 TBX1 gene |
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Di George syndrome features |
CATCH 22 Deletion of Chromosome 22 long arm 22q11 TBX gene Problem in 3rd pharyngeal arch Cleft palate Abnormal facies Thymus aplasia - T cell defect Cardiac defects eg. TOF Hypocalcemia - parathyroid hypoplasia PTH deficiency Schizophrenia |
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Genetic ds associated with Schizophrenia |
Di George syndrome |
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Genetic ds associated with Schizophrenia |
Di George syndrome |
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Genetic defect & clinical features associated with hyperIgM syndrome |
CD 40 receptor on B cell Or CD 40 ligand on T cell (aka CD 154) Infections Pneumocystis jirovecii - crushed ping pong ball |
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Genetic defect & clinical features associated with hyperIgE syndrome/ JOB syndrome |
STAT 3 gene |
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Genetic defect & features associated with Wiscott Aldrich syndrome |
WAS gene Xp11.22 X linked recessive Immunodeficiency syndrome Triad - BIE Bleeding episodes - small sized platelets - bone marrow defect Repeated infections Eczema IgM decreased IgA/E increased |
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Ataxia telangectesia gene defect |
11q22 |
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Genetic defect & features associated with alpha1 antitrypsin deficiency |
Autosomal recessive Chromosome 14 Panacinar emphysema Cirrhosis of liver |
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Genetic defect associated with Ewing sarcoma |
Translocation 11:22 EWS FLI1 fusion Eleven...2 is reverse S Wings make you fly |
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Genetic defect associated with desmoplastic small round cell tumour |
Sarcoma like.. Dobara Ewing sarcoma T(11:22) EWS WT1 |
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Genetic defect associated with extraskeletal myxoid chondrosarcoma |
EMC CME CML t(9:22) |
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Genetic defect associated with synovial sarcoma |
t(X 18) |
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Genetic defect associated with alveolar soft part sarcoma |
t (X 17) |
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Genetic defect associated with infantile fibrosarcoma |
t(12:15) ETV NTRK |
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Genetic defect associated with dermatofibrosarcoma protruberance |
t(17:22) COLA |
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Genetic defect associated with nodular fasciitis |
t(22:17) |
