26/01/2018 Genetics and Inheritance Dr Michelle Thunders
[email protected] Key terms • Gene • Chromosome • Locus • Allele • Homozygous • Heterozygous • Genotype • Phenotype • Dominant • Recessive Human Cells Nuclei contain 46 chromosomes (23 pairs of homologous chromosomes) -- except gametes 44 = autosomes 2 = sex chromosomes XX= female guide expression of traits determineXY = male genetic sex 1 26/01/2018 Human chromosomes • number and size of chromosomes in a cell is the karyotype. • All somatic cells of an organism have the same karyotype. •Group A: Longest chromosomes with centromeres near middle (1,2,3) •Group B: Long chromosomes with centromeres toward one end. (4,5) •Group C: Medium sized chromosoems, meta- to submetacentric (6,7,8,9,10,11,12) •Group D: Moderately short, centromere to one end (an acrocentric may have a very short arm) (13,14,15) •Group E: Moderately short, metacentric to submetacentric (16,17,18) •Group F: Very short, metacentric (19,20) •Group G: Very short, acrocentric (21,22) •X: like the largest in group C •Y: very short, like a G group chromosome Complete Karyotype diploid onegenome from = eggtwo andsets ofone genetic from instructions sperm Marieb et al, 2007 2 26/01/2018 Gene Alleles • Chromosomes paired -- so genes paired (one from each parent) • Two matched genes at same location (locus)on chromosome = allele • Allele code for same or different form of trait • If two allele code for same trait = homozygous • If two allele different = heterozygous Alleles Example: Dimples determined by a dominant