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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.
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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
134 million bp of DNA 2000 genes Chromosome 11
Phenotype No Anemia Maternal Paternal HbA HbA (GAG) (GAG) Hb Genotype HbAHbA Chromosome 11 Homologs
Maternal Paternal HbS HbS (GTG) (GTG) Hb Genotype HbSHbS Phenotype Sickle Cell Anemia Chromosome 11 Homologs
Maternal Paternal HbA HbS (GAG) (GTG) Hb Genotype HbA HbS Phenotype Sickle Cell Trait Chromosome 11 Homologs
Maternal Paternal HbS HbA (GTG) (GAG) Hb Genotype HbA HbS Phenotype Sickle Cell Trait Chromosome 11 Homologs
Chromosome 21 47 million bp 386 Genes
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
Female Meiosis Male Fig. 2-11
Meiotic Nondisjunction Disomic Gametes Nullisomic Gametes
Meiotic Nondisjunction Disomic Gametes Monosomic 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
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
Gg/Ww Meiosis and Mendel’s Law of Independent Assortment Genotype DD or Dd Gw gw GW gW Fig. 3-11
Gg/Ww Meiosis and Mendel’s Law of Independent Assortment Genotype dd Gw gw GW gW Fig. 3-11
Gg/Ww Meiosis and Mendel’s Law of Independent Assortment 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
“A” Antigen H substance H substance Precursor
H substance H substance Precursor “B” Antigen