Genotype and Phenotype
Correlating Genotype and Phenotype An important component of medical genetics is identifying and characterizing the genotypes responsible for particular disease phenotypes. In doing so, it is important not to adhere…
Effects on Inheritance Patterns
Figure 7-19 Pedigree of a family with paraganglioma syndrome 1 caused by a mutation in the SDHD gene. Individuals II-1, II-2, II-4, III-2, III-3, III-9, III-10, IV-6, IV-7, IV-11, and IV-14 each…
of Mutations and Their Consequences
Nucleotide Substitutions Missense Mutations A single nucleotide substitution (or point mutation) in a gene sequence, such as that observed in the example of achondroplasia just described, can alter the code…
Inheritance
Figure 7-16 Pedigree showing inheritance of dyschondrosteosis due to mutations in SHOX, a pseudoautosomal gene on the X and Y chromosomes. The arrow shows a male who inherited the trait on…
Inheritance
− Represents no reaction; + represents reaction. RBC, red blood cell. A feature of the ABO groups not shared by other blood group systems is the reciprocal relationship, in an…
and Concepts
Figure 7-1 The concepts of genotype and phenotype. (Left) The genotype refers to information encoded in the genome. Diagram of one pair of homologous chromosomes and two loci on that chromosome, Locus…
for Specific Topics
References for Specific Topics Bartolomei MS, Ferguson-Smith AC. Mammalian genomic imprinting. Cold Spring Harb Perspect Biol. 2011;3:a002592. Baxter R, Vilain R. Translational genetics for diagnosis of human disorders of sex…
References
General References Achermann JC, Hughes IA. Disorders of sex development. Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams textbook of endocrinology. ed 12. WB Saunders: Philadelphia; 2011:886–934. Gardner RJM,…
Expression in Action
Figure 3-6 Structure and nucleotide sequence of the 5′ end of the human β-globin gene on the short arm of chromosome 11. Transcription of the 3′ to 5′ (lower) strand begins at…
