Interphase (G1, S, G2) Chromosomes M-Phase Chromosome

“ideogram” (G-bands) X Chromosome Giemsa Stain

Human Euploid Karyotypes Female Male Fig. 7-6

Homologous Chromosomes P = Paternal M = Maternal P M

Chromosome DNA size Gene # Chromosome DNA Size Gene # 1 247 Mbp 3186 14 106 Mbp 1420 2 243 Mbp 2093 15 100 Mbp 1143 3 200 Mbp 1638 16 89 Mbp 1270 4 191 Mbp 1300 17 79 Mbp 1650 5 181 Mbp 1448 18 76 Mbp 480 6 171 Mbp 1843 7 159 Mbp 1722 19 64 Mbp 1861 8 146 Mbp 1162 20 62 Mbp 824 9 140 Mbp 1394 21 47 Mbp 386 10 135 Mbp 1259 22 50 Mbp 812 11 134 Mbp 2000 X 155 Mbp 1529 12 132 Mbp 1509 13 114 Mbp 611 Y 58 Mbp 344

X Chromosome 155 Million base pairs (bp) 1529 Genes

Y Chromosome 58 Million base pairs (bp) 344 Genes

Chromosome 11 2000 genes 134 million bp of DNA

(GAG) (GAG) HbA HbA Hb Genotype HbAHbA Phenotype No Anemia Maternal Paternal HbA HbA (GAG) (GAG) Hb Genotype HbAHbA Phenotype No Anemia Chromosome 11 Homologs

(GTG) (GTG) HbS HbS Hb Genotype HbSHbS Phenotype Sickle Cell Anemia Maternal Paternal HbS HbS (GTG) (GTG) Hb Genotype HbSHbS Phenotype Sickle Cell Anemia Chromosome 11 Homologs

(GAG) (GTG) HbA HbS Hb Genotype HbA HbS Phenotype Sickle Cell Trait Maternal Paternal HbA HbS (GAG) (GTG) Hb Genotype HbA HbS Phenotype Sickle Cell Trait Chromosome 11 Homologs

(GTG) (GAG) HbS HbA Hb Genotype HbA HbS Phenotype Sickle Cell Trait Maternal Paternal HbS HbA (GTG) (GAG) Hb Genotype HbA HbS Phenotype Sickle Cell Trait Chromosome 11 Homologs

Down (Trisomy 21) Karyotype

Chromosome 21 47 million bp 386 Genes

Turner Syndrome Karyotype

Amniocentesis Karyotype analysis 14-16 weeks Fig. 24-11 Pg. 644

Chorionic Villus Sampling (CVS) Karyotype analysis 10-12 weeks

Gametes (haploid cells) Fig. 2-8

Chromosome structure in M-phase Chromosome structure in interphase

Pairing of Homologous Chromosomes SP P SP Synaptonemal Complex SM M SM Fig. 2-14

Single Crossover (SCO) Paternal Paired Homologous Chromosomes Maternal

Gametes (haploid cells) Fig. 2-8

Male Meiosis Fig. 2-11

Male Female Meiosis Fig. 2-11

Turner Syndrome Karyotype

Meiotic Nondisjunction Disomic Gametes Nullisomic Gametes

Meiotic Nondisjunction Monosomic Gametes Disomic Gametes Nullisomic Gametes

X Chromosome (1529 Genes) Female Male

Inactive X Chromosome (“Barr Body”) Fig. 7-10

X Chromosome Inactivation No Transcription on this X chromosome!

Anhidrotic Ectodermal Dysplasia Fig. 7-13 Pg. 186

G C C T A C G A T T C G G A T G C T A A G C C T A C G A T T C G G A T G C T A A G C C T A C G A T T C G G A T G C T A A G C C T A C G A T T C G G A T G C T A A

Reciprocal Translocation

Non-Reciprocal Translocation

14;21 Translocation 14 14 21 21 14;21 (non-reciprocal)

Chromosome 21 47 million bp 386 Genes

14;21 Translocation 14 14 21 21 14;21 (non-reciprocal)

Familial Down Syndrome Gamete with Normal Haploid Karyotype

Phenotype of Mendel’s Pea Plants Fig. 3-1

Meiosis and Mendel’s Law of Segregation Gg g G Fig. 3-11

Meiosis and Mendel’s Law of Segregation Gg g G Fig. 3-11

Meiosis and Mendel’s Law of Independent Assortment Genotype DD or Dd Gg/Ww Meiosis and Mendel’s Law of Independent Assortment Genotype DD or Dd gw Gw GW gW Fig. 3-11

Meiosis and Mendel’s Law of Independent Assortment Genotype dd Gg/Ww Fig. 3-11

Meiosis and Mendel’s Law of Independent Assortment Gg/Ww Gw gw GW gW Fig. 3-11

Heterozygous Genes Showing Independent Assortment Gamete Genotypes Gene # F2 Genotypes F2 Phenotypes 1 2 3 2 2 4 9 4 3 8 27 8 4 16 81 16 5 32 243 32 n 2n 3n 2n Table 3.1

H substance Precursor “A” Antigen

H substance H substance Precursor “B” Antigen

AB Blood Group “A” Antigen “B” Antigen

Genotype/Phenotype for ABO Blood Group System Page 70

Fig. 4-3 Pg. 76

“A” Antigen IA Allele H substance HH Hh H substance Precursor Fucose Transferase H substance HH Hh H substance Precursor IB Allele “B” Antigen

hh H substance Precursor

Mouse Coat Color Phenotype Albino mouse Agouti mouse Black mouse

F2 Ratios Observed in Epistasis * * * * Recessive Epistasis Fig. 4 - 8 * Dominant Epistasis

X Chromosome 155 Million base pairs (bp) 1529 Genes

X-Linked Pedigree Fig. 4-13

Sex Influenced Traits Pattern Baldness Female Male

Fig. 4 -1 1 : 2 : 1

Fig. 24 -2

Continuous Variation

F2 Phenotypic Classes Number of Genes 5 2 7 3 9 4 11 5 Fig. 24 - 3