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…
Figure 61.1 Comparison of forward-phase and reverse-phase protein microarrays. (a) Forward-phase microarray. Capture antibodies are first immobilized on the slide surface. These immobilized antibodies are used to capture the antigens…
Figure 6.1 Common types of chromosome abnormalities detected by standard chromosome analysis (G-banded karyotyping). (a) Aneuploidy, defined as the loss or gain of an entire chromosome, shown as trisomy 21….
Type Cytogenetic change(s) Genes affected Pathway type CML t(9;22) BCR–ABL1 TK growth +8, del17p (CE) PV, PMF, ET XY/XX JAK2 Cytokine receptors +9, +1/1q (CE) CEL/MPN-U XY/XX FIP1L1–PDGFRA RTK t(8p11;var)…
Amsterdam Criteria II There should be at least three relatives with an HNPCC-associated cancer (CRC, cancer of the endometrium, small bowel, ureter, or renal pelvis) One should be a first-degree…
Figure 12.1 FGFR-associated syndromic conditions Table 12.1 FGFR1, –2, and –3 genes Gene OMIM Chromosomal location Gene organization FGFR1 *136350 8p11.23-p11.22 18 exons, 17 coding FGFR2 *176943 10q26.13 18 exons,…
Tumor type Heritable retinoblastoma Nonheritable retinoblastoma Eyes affected Bilateral in 90–95 % of cases Unilateral in 100 % of cases Unilateral in remaining cases Age of onset Usually < 1…
