Forensic DNA Typing
Figure 54.1 The most common DNA evidence in US crime laboratories is a vaginal swab from a rape kit. This photomicrograph is a stained vaginal smear from a rape kit….
Chimerism Testing in Allogeneic Hematopoietic Stem Cell Transplantation
Term Definition Significance Complete or full donor chimerism Only donor detected Suggests complete hematopoietic engraftment, but low levels of recipient cells may not be detected depending on the method used…
Coagulation Disorders
Figure 15.1 The Coagulation Cascade: a activated factor; Ca 2+ calcium; PL phospholipid. Reprinted with permission from Davie EW, Fujikawa K, Kisiel W. The coagulation cascade: initiation, maintenance and regulation….
Next-Generation Sequencing: Principles for Clinical Application
Figure 59.1 Roche 454 GS FLX sequencing. Template DNA is fragmented, end repaired, ligated to adapters, and clonally amplified by emulsion PCR. After amplification, the beads are deposited into picotiter-plate…
Molecular HLA Typing
Name Molecular characteristics HLA-F Class I-like molecule HLA-G Class I-like molecule HLA-H Class I pseudogene HLA-A Class I α chain HLA-J Class I pseudogene HLA-E Class I-like molecule HLA-C Class…
T-Cell Lymphomas
T-cell prolymphocytic leukemia T-cell large granular lymphocytic leukemia Chronic lymphoproliferative disorders of NK cells Aggressive NK-cell leukemia Epstein-Barr virus (EBV) positive T-cell lymphoproliferative disorders of childhood Systemic EBV-positive T-cell lymphoproliferative…
Specimen Identification Through DNA Analysis
Type of analysis Typically tested specimens Specimen identification Unknown specimen Specimen confirmed to be from the known individual(s) Histologic floater Macrodissected floater tissue Main tissue on slide separated from floater…
Prostate Cancer
Change Gene Encodes Location Function Tumor Suppressor Genes NKX3.1 Prostate restricted homeobox protein 8p21.2 Suppresses cell proliferation PTEN Phosphatase and tensin homolog 10q23.31 Suppresses cell proliferation and increases apoptosis CDKN1B…
Colorectal Cancer
Pathway Genes Frequency (%) MAPK pathway KRAS 40–45 NRAS 2.5 BRAF 5–10 PI3K pathway PIK3CA 15 PTEN 10–20 AKT 5 Table 31.2 Overall RAS mutations in CRCs without mutations in…
Polycystic Kidney Disease
Figure 19.1 Normal and polycystic kidneys. A normal kidney is shown on the left and a kidney with a high number of variable-sized cysts that characterize polycystic kidney disease is…
