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Interphase (G1, S, G2) Chromosomes M-Phase Chromosome
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“ideogram” (G-bands) X Chromosome Giemsa Stain
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Human Euploid Karyotypes
Female Male Fig. 7-6
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Homologous Chromosomes
P = Paternal M = Maternal P M
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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
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X Chromosome 155 Million base pairs (bp) 1529 Genes
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Y Chromosome 58 Million base pairs (bp) 344 Genes
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Chromosome 11 2000 genes 134 million bp of DNA
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(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
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(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
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(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
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(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
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Down (Trisomy 21) Karyotype
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Chromosome 21 47 million bp 386 Genes
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Turner Syndrome Karyotype
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Amniocentesis Karyotype analysis 14-16 weeks Fig Pg. 644
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Chorionic Villus Sampling (CVS)
Karyotype analysis 10-12 weeks
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Gametes (haploid cells) Fig. 2-8
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Chromosome structure in M-phase Chromosome structure in interphase
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Pairing of Homologous Chromosomes
SP P SP Synaptonemal Complex SM M SM Fig. 2-14
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Single Crossover (SCO)
Paternal Paired Homologous Chromosomes Maternal
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Gametes (haploid cells) Fig. 2-8
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Male Meiosis Fig. 2-11
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Male Female Meiosis Fig. 2-11
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Turner Syndrome Karyotype
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Meiotic Nondisjunction
Disomic Gametes Nullisomic Gametes
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Meiotic Nondisjunction
Monosomic Gametes Disomic Gametes Nullisomic Gametes
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X Chromosome (1529 Genes) Female Male
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Inactive X Chromosome (“Barr Body”)
Fig. 7-10
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X Chromosome Inactivation
No Transcription on this X chromosome!
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Anhidrotic Ectodermal Dysplasia
Fig. 7-13 Pg. 186
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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
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Reciprocal Translocation
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Non-Reciprocal Translocation
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14;21 Translocation 14 14 21 21 14;21 (non-reciprocal)
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Chromosome 21 47 million bp 386 Genes
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14;21 Translocation 14 14 21 21 14;21 (non-reciprocal)
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Familial Down Syndrome Gamete with Normal Haploid Karyotype
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Phenotype of Mendel’s Pea Plants
Fig. 3-1
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Meiosis and Mendel’s Law of Segregation Gg g G Fig. 3-11
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Meiosis and Mendel’s Law of Segregation Gg g G Fig. 3-11
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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
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Meiosis and Mendel’s Law of Independent Assortment Genotype dd Gg/Ww
Fig. 3-11
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Meiosis and Mendel’s Law of Independent Assortment Gg/Ww Gw gw GW gW
Fig. 3-11
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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
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H substance Precursor “A” Antigen
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H substance H substance Precursor “B” Antigen
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AB Blood Group “A” Antigen “B” Antigen
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Genotype/Phenotype for ABO Blood Group System
Page 70
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Fig. 4-3 Pg. 76
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“A” Antigen IA Allele H substance HH Hh H substance Precursor
Fucose Transferase H substance HH Hh H substance Precursor IB Allele “B” Antigen
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hh H substance Precursor
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Mouse Coat Color Phenotype
Albino mouse Agouti mouse Black mouse
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F2 Ratios Observed in Epistasis
* * * * Recessive Epistasis Fig * Dominant Epistasis
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X Chromosome 155 Million base pairs (bp) 1529 Genes
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X-Linked Pedigree Fig. 4-13
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Sex Influenced Traits Pattern Baldness Female Male
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Fig. 4 -1 1 : 2 : 1
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Fig
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Continuous Variation
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F2 Phenotypic Classes Number of Genes 5 2 7 3 9 4 11 5 Fig
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