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…
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…
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…
Abbreviations used in text Precursor B–cell lymphoblastic leukemia/lymphoma Pre-B ALL/LBL Mature B–cell neoplasms Chronic lymphocytic leukemia/small lymphocytic lymphoma CLL/SLL B-cell prolymphocytic leukemia PLL Hairy cell leukemia HCL Lymphoplasmacytic…
Genetic predisposition Down syndrome Fanconi anemia Other inherited bone marrow failure syndromes: Shwachman-Diamond Diamond-Blackfan Dyskeratosis congenita Kostmann’s Familial platelet disorder (RUNX1 mutation) DNA repair defects, e.g., Bloom syndrome Other germline…
Figure 41.1 Schematic representation of two types of gene alterations generated by chromosomal translocations. (a) A protooncogene (B) is activated by the promoter and enhancer elements of a distinct translocation…
Figure 37.1 Mechanisms of chromosomal DNA rearrangement leading to altered gene expression by either gene fusion (top pathway) or promoter exchange (bottom pathway) The first mechanism by which chromosomal translocations…
Genetic element Size in base pairs Human chromosome 3.3 × 109 Bacterial chromosome 1–4 × 106 Mitochondrial chromosome 16,569 Bacteriophage 39,000 CAM plasmid 500,000 pUC19 plasmid (engineered plasmid) 2,686 Retrotransposon (i.e., SINE to LINE…
Gene MSUD type Locus Size Protein subunit Exons Founder mutations BCKDHA Ia 19q13 28 kb E1a 9 p.T438N BCKDHB Ib 6q14 240 kb E1b 11 p.R183P, p.G278S, p.Q372X DBT II…
Figure 5.1 (a) Pedigree of a family with individuals affected with Kennedy disease (see text). (b) Bayesian analysis for the consultand in a. (c) Schematic representation of the Bayesian analysis…
