Cytogenetics Semifinals - PDF

CGEN100: CYTOGENETICS FIRST QUARTER, FIRST SEMESTER Lecturer: Dr. Wilson G. Sarao LESSON 1: CYTOGENETIC TECHNIQUES CYTOGENETICS EXAMPLE Study of the physical size and...

CGEN100: CYTOGENETICS FIRST QUARTER, FIRST SEMESTER Lecturer: Dr. Wilson G. Sarao LESSON 1: CYTOGENETIC TECHNIQUES CYTOGENETICS EXAMPLE Study of the physical size and structure of 1) 47, XY, +18 chromosomes Interpreted as: A specialized laboratory discipline that examines the ○ 47 chromosomes structure and behavior of chromosomes at the ○ Male cellular level ○ Extra autosomal chromosome 18 To study this, cells are arrested in the end prophase or 2) 46, XX, del (14) (q23) in the early metaphase of mitosis because of Interpreted as: ○ Compact and density staining of ○ Female with 46 chromosomes, with a chromosomes deletion of chromosome 14 on the ○ Characteristic size and shape of chromosomes long arm of band 23 KARYOTYPE Checks the number of chromosomes in the normal diploid cell Check the size distribution Human chromosome ○ 23 pairs of chromosome ○ 22 somatic (body) pairs ○ 1 pair of sex chromosomes CYTOGENETIC TECHNIQUES TWO TECHNIQUES 1) Classical or Standard Cytogenetic 2) Fluorescence In Situ Hybridization (FISH) Classical or Standard Cytogenetic Allows visualization of loss or gain of material Analysis also involves: Fluorescence In Situ Hybridization (FISH) Length Allows much smaller changes to be seen Location of centromeres Far more advanced Location and sizes of G-bands Taking note of: TYPES OF SPECIMENS Total number of chromosomes 1) Blood Sex chromosomes Additive — EDTA (lavender-top tube) Any extra or missing autosomal chromosomes ○ EthyleneDiamineTetraAcetic Acid Prevents the coagulation of blood Allows the qualitative and quantitative determination of HIV, Hepatitis C, and Cytomegalovirus (CMV) Additive — Acid Citrate Dextrose (yellow-top tube) ○ Prevents the coagulation of blood ○ Preserve the form and function of cellular components 2MT02 | FERNANDEZ, H. | PAGE 1  Table 1. EDTA & Acid Citrate Dextrose 4) Cerebrospinal Fluid EDTA Acid Citrate Dextrose Rapid identification of infectious agents in the CNS 4 tubes are collected ○ 2nd tube is used 2) Urine Uncommon Table 2. Cerebrospinal Fluid Analysis Results Used for: RESULTS NORMAL RANGE ○ Bladder cancer screening CSF Protein 120 50-80 mg/dL ○ Monitor therapy for bladder cancer CSF Glucose 10 15-45 mg/dL Midstream, clean catch CSF Red Blood Cell 0 0 cells/mm³ First 10 mL Count CSF White Blood 130 0-3 cells/mm³ Cell Count Neutrophils Increased Lymphocyte Markedly Increased Xanthochromia Absent None Table 3. ??? NORMAL BACTERIAL VIRAL FUNGAL/TB Pressure 5-20 >30 Normal or (cmH₂O) Mildly Increased Appearance Normal Turbid Clear Fibrin Wed Protein (g/L) 0.18-0.45 >1