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Figure 13.9 The results of alternative arrangements of two homologous chromosome pairs on the metaphase plate in meiosis I. Genetic cross. Mended tracked heritable characters for three generations. Mendel deduced: Discrete genetic determinants from each parent. Some dominant over others.
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Figure 13.9 The results of alternative arrangements of two homologous chromosome pairs on the metaphase plate in meiosis I
Mended tracked heritable characters for three generations Mendel deduced: Discrete genetic determinants from each parent. Some dominant over others.
Alleles, alternative versions of a gene (Dominant) (Recessive)
Mendel’s law of segregation Punnett square
The Results of Mendel’s F1 Crosses for Seven Characters in Pea Plants
MENDEL’S LAWS OF INHERITANCE • Segregation of alleles • Independent assortment of different traits
Mendel was not only smart, but extremely lucky. All his traits were dominant/recessive and on different chromosomes (or were far apart on a chromosome)
Genes that are on the same chromosome are said to be “linked” Closely linked genes do not assort independently in meiosis, they are inherited together.
Human Genetics How do geneticists study human genetics?
Some Human traits that are inherited in a Mendelian fashion (dominant and recessive) • Tongue Rolling • Widow’s Peak • Mid-digit finger hair • Unattached ear lobes • Asparagus pee Recessive trait Dominant trait (Attached earlobes) (Widow’s peak)
Human Genetic Disorders inherited in Mendelian fashion Autosomal Recessive disorders: • Albinism • PKU (phenylketonuria) • Cystic Fibrosis • Sickle cell anemia • Tay-Sachs • Hereditary deafness
Autosomal Dominant disorders: How do mutant alleles act in a dominant fashion? Most serious dominant disorders are not passed on. One exception is Huntington’s Disease
Achondroplasia Is it possible for this couple to have normal height children?
SCREENING FOR HUMAN GENETIC DISORDERS Amniocentesis and karyotyping for gross chromosomal abnormalities
Molecular Screening: -adolescents and adults -Fetal -Pre-implantation What is your opinion on in-vitro fertilization and pre-implantation screening?
The relationship between genotype and phenotype is not always so simple
Sex-Linked Traits Humans have 22 pairs of autosomes and 1 “pair” of sex chromosomes
Sex-linked traits were discovered in fruit flies. Male fly with white eyes (mutant) Normal (wild-type) fly
Sex-linked inheritance Sex-linked traits “skip a generation”. Phenotype comes from maternal grandfather. Color-blindness, hemophilia examples in humans.
Knowledge of the molecular basis of gene expression gives us a handle on understanding these different types of gene (allele) interaction and phenotypic expression. Genes code for proteins! Functional vs. nonfunctional enzymes, dosage affects, etc.
A and B are codominant, O is recessive to A and B Multiple alleles for the ABO blood groups
PLEIOTROPY One gene (or genotype) results in multiple phenotypes. Many different outward effects on the organism.
Pleiotropic effects of the sickle-cell allele in a homozygote
POLYGENIC INHERITANCE -Multiple genes resulting in one phenotype. Ex. Skin color, eye color.
At least 2 genes invloved in pigment formation. (Location of color also important)
A simplified model for polygenic inheritance of skin color Environmental effects also affect the range of phenotype (multifactorial trait)
The effect of environment of phenotype Soil acidity effects the color of hydrangeas. Temperature sensitive mutations for pigment formation