Bio H97 Lecture 6/7: Mendelian Inheritance in Humans/Pedigrees

L6: Ch. 2 (51-59), Ch. 3 (87-94), Ch. 17 (633-640) L7: Ch. 2.6 (51-59), Ch. 4 (120)

Autosomal Dominant

pattern of hereditary transmission in which the dominant allele of an autosomal gene results in the appearance of the dominant phenotype

X-Linked Dominant

pattern of inheritance consistent with the transmission of a dominant allele of a gene on the X chromosome

Autosomal Recessive

pattern of hereditary transmission in which the recessive allele of an autosomal gene results in the appearance of the recessive phenotype

X-Linked Recessive

pattern of inheritance consistent with the transmission of a recessive allele of a gene on the X chromosome

Autosomal Inheritance

Hereditary transmission of genes carried on autosomes

Complete Penetrance

observation that the phenotype for a trait is always produced when the corresponding genotype(s) are present

Sex Chromosomes

homologous chromosomes that differ between the sexes; designated X and Y in species in which females are XX and males XY; designated Z and W in species in which females are ZW and males are ZZ

Sex-Linked Inheritance

inheritance of genes on sex chromosomes

SRY Gene

"sex-determining region of Y"; gene located on Y chromosome that initiates development of male sex by triggering genetic and developmental events

Haploid

Possessing a single set of chromosomes (n); a cell or organism that possesses one-half the number of chromosomes found in diploid cells of the organism

Hemizygous

Referring to the genotype of males that carry a single copy of each X-linked gene

Mitochondrial DNA (mtDNA)

genetic structure found within mitochondria of eukaryotic cells

Mitochondrial Disease

genetic disorders caused by mutations in mitochondrial DNA which affect mitochondria's ability to produce energy

X-Linked Inheritance

pattern of inheritance characteristic of genes located on the X chromosome

Incomplete Penetrance

occurrence of individual organisms that have a particular genotype or allele but not the corresponding phenotype