GenotypesPhenotypesMalesHemizygous XHUnaffectedHemizygous XhAffectedFemalesHomozygous XH/XHUnaffectedHeterozygous XH/XhCarrier (may or may not be affected)Homozygous (or compound heterozygous) Xh/XhAffected X Inactivation, Dosage Compensation, and the Expression of X-Linked Genes As introduced in Chapters 3…
Figure 12-2 The biochemical pathways affected in the hyperphenylalaninemias. BH4, tetrahydrobiopterin; 4αOHBH4, 4α-hydroxytetrahydrobiopterin; qBH2, quinonoid dihydrobiopterin, the oxidized product of the hydroxylation reactions, which is reduced to BH4 by dihydropteridine reductase (DHPR);…
Figure 14-16 General transcription factors, shown in blue, and RNA polymerase bind to cis-acting sequences closely adjacent to the messenger RNA (mRNA) transcriptional start site; these cis-acting sequences are collectively referred…
Figure 5-8 Incidence of chromosome abnormalities in newborn surveys, based on chromosome analysis of over 68,000 newborns. See Sources & Acknowledgments. Chromosome abnormalities are described by a standard set of abbreviations…
*Principally in individuals of European descent. †Principally in individuals of Italian and Middle Eastern descent. LDL, Low-density lipoprotein. Partly modified from Goldstein JL, Brown MS: The cholesterol quartet. Science 292:1310–1312,…
Figure 14-1 Polydactyly and syndactyly malformations. A, Insertional polydactyly. This patient has heptadactyly with insertion of a digit in the central ray of the hand and a supernumerary postaxial digit. This malformation…
CL(P), Cleft lip with or without cleft palate. Another approach is to compare the disease relative risk ratio in biological relatives of the proband with that in biologically unrelated family…
Figure 8-7 Pedigree of a family with retinitis pigmentosa due to digenic inheritance. Dark blue symbols are affected individuals. Each individual’s genotypes at the peripherin locus (first line) and ROM1 locus (second…
