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Genetics
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Huntington disease
Li-Fraumeni syndrome
Marfan syndrome
Multiple endocrine neoplasia
Myotonic dystrophy
Neurofibromatosis
Treacher Collins syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Polycystic kidney disease
Cystic fibrosis
Friedreich ataxia
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Fragile X syndrome
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Lesch-Nyhan syndrome
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review
Mendelian genetics and punnett squares
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Genetics is the science that studies inheritance, or the way parents transmit certain traits to their descendants.
And Mendelian genetics, refers to Gregor Mendel—an Austrian monk—who studied inheritance by experimenting on pea plants.
He cross-pollinated the flowers of different plants together, took the seeds the developed from the pairing, planted those seeds, and took careful notes on the types of peas that resulted in the subsequent generations. As a monk he was just trying to find his inner peas (peace)!
Now in addition to having lots and lots of peas in his garden, he helped to formulate two important laws; the law of segregation and the law of independent assortment.
So to start out - Mendel took plants with violet flowers and plants with white flowers and crossbreed them.
This original group of flowers are called the P generation, as in “parent,” and then when he obtained some peas, he planted them and got more plants and the flowers in this offspring generation was called F1, or filial one.
It turned out that the F1 generation consisted of all violet flowers, so he called the violet trait “dominant,” while the white trait which appeared to be lost in the F1 generation, was called “recessive.”
Next, Mendel let the violet flowers in the F1 generation cross-pollinate amongst themselves, and when they formed peas - he planted them again.
He got more plants and the flowers from that second generation of plants he called filial two or F2.
It turned out that some of the plants in this F2 generation had white flowers whereas other plants had purple flowers! In fact, the ratio was about 3 violet flowering plants for every 1 white flowering plant.
Based on this experiment, Mendel drew a few conclusions.
First, since the F1 violet flowers had some offspring plants that produced violet flowers and other offspring plants that produced white flowers, it meant that the F1 plants must have contained both of these elements.
The inheritable elements of pea plants are its the gametes, so that meant that the gametes of the F1 plant, contained either the dominant violet trait or the recessive white trait.
The F2 plants are created with one gamete from each parent.
And Mendel worked out that the white flowering plants resulted when they receive both white flower elements, and that plants that had at least one violet flower element from either parent would produce violet flowers.
Mendel didn’t know this at the time, but the “element” he was referring to were segments of DNA called genes that encoded flower color.
These genes were located on specific parts of chromosomes, called loci.
Different versions of a gene are called alleles, and in the case of the flowers there were two alleles - a white and violet allele for flower color.
A helpful way to visualize Mendel’s experiment is to use a Punnett square.
Mendelian genetics is the study of how genes are passed from parents to their offspring. Genes are inherited in pairs, one gene from each parent. Punnett squares are a tool used by geneticists to predict the possible combinations of genes that could be inherited from a particular mating. To use a Punnett square, you first need to determine the genotypes of each parent. Then you can use the Punnett square to predict the possible genotypes of their offspring.
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