Mendelian genetics and Punnett squares — Transcript
Full transcript
- 0:03Genetics is the science that studies
- 0:05inheritance or the way parents transmit
- 0:07certain traits to their descendants. And
- 0:10Mandelian genetics refers to Gregor
- 0:12Mandel, an Austrian monk who studied
- 0:15inheritance by experimenting on pea
- 0:17plants.
- 0:21He cross-pollinated the flowers of
- 0:22different plants together, took the
- 0:24seeds that developed from the pairing,
- 0:26planted those seeds, and took careful
- 0:28notes on the types of peas that resulted
- 0:30in the subsequent generations.
- 0:33You might say as a monk, he was trying
- 0:35to find his inner peas. Now, in addition
- 0:38to having lots and lots of peas in his
- 0:40garden, he helped to formulate two
- 0:42important laws. The law of segregation
- 0:44and the law of independent assortment.
- 0:48So to start out, Mandel took plants with
- 0:50violet flowers and plants with white
- 0:52flowers and crossbred them. This
- 0:55original group of flowers are called the
- 0:57P generation as in parent. And then when
- 1:00he obtained some peas, he planted them
- 1:02and got more plants. And the flowers in
- 1:05this offspring generation were called F1
- 1:07or filial 1.
- 1:10It turns out that the F1 generation
- 1:12consisted of all violet flowers. So we
- 1:14called the violet trait dominant. while
- 1:17the white trait which appeared to be
- 1:19lost in the F1 generation was called
- 1:21recessive.
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- 1:41Next, Mandel let the violet flowers in
- 1:43the F1 generation cross-pollinate
- 1:45amongst themselves. And when they formed
- 1:47peas, he planted them again. From this
- 1:50he got more plants. And the flowers from
- 1:52the second generation of plants he
- 1:54called filial 2 or F2.
- 1:57It turned out that some of the plants in
- 1:58this F2 generation had white flowers,
- 2:01whereas other plants had purple flowers.
- 2:04In fact, the ratio was about three
- 2:06violet flowering plants for every one
- 2:08white flowering plant. Based on this
- 2:11experiment, Mendel drew a few
- 2:13conclusions.
- 2:14First, since the F1 violet flowers had
- 2:16some offspring plants that produce
- 2:18violet flowers and other offspring
- 2:20plants that produced white flowers, it
- 2:22meant that the F1 plants must have
- 2:24contained both of these elements. The
- 2:26inheritable elements of Pants are its
- 2:28gameamtes.
- 2:31So that meant that the gametes of the F1
- 2:33plant contained either the dominant
- 2:34violet trait or the recessive white
- 2:36trait.
- 2:39The F2 plants are created with one game
- 2:41from each parent. And Mandel worked out
- 2:44that the white flowering plants resulted
- 2:46when they received both white flower
- 2:48elements and that plants that had at
- 2:50least one violet flower element from
- 2:52either parent would produce violet
- 2:53flowers.
- 2:55Mandel didn't know this at the time, but
- 2:57the element he was referring to were
- 2:59segments of DNA called genes that
- 3:02encoded each flower color. These genes
- 3:04were located on specific parts of
- 3:06chromosomes called loi. Different
- 3:09versions of a gene are called alals. And
- 3:11in the case of the flowers, there were
- 3:13two alals, a white and violet al for
- 3:15flower color.
- 3:17A helpful way to visualize Mandel's
- 3:19experiment is to use a punit square.
- 3:22Imagine a box with four squares in it
- 3:24where we put the genetic information of
- 3:26one parent or genotype on the horizontal
- 3:29row and the other parent on the vertical
- 3:31column. The dominant alil represented
- 3:34with a capital letter codes for a violet
- 3:36flower and the recessive alle
- 3:39represented with a lowercase letter
- 3:41codes for a white flower. The letter we
- 3:43choose doesn't matter. So let's use
- 3:45capital P for the violet flower al and a
- 3:47lowercase P for the white flower al
- 3:51generation. Mandel used pure breeding
- 3:53plants. So their genotype was two of the
- 3:56same alals. In other words, both of the
- 3:58parent plants in this generation were
- 4:00homozygous for flower color trait. Homo
- 4:03meaning same and zygus referring to the
- 4:05male and female alals.
- 4:08The violet pea plant had two of the same
- 4:10dominant alals capital P capital P and
- 4:14therefore had all violet flowers.
- 4:16Whereas the white pea plant had two of
- 4:18the same recessive alals lowercase P
- 4:21lowercase P and therefore had all white
- 4:23flowers. Now the observable trait that
- 4:26results from the genotype is called the
- 4:27phenotype. In this case the phenotype is
- 4:30the flower color.
- 4:33So when the violet and white flowering
- 4:34plants were crossbreed, each offspring
- 4:37got a dominant alil from the violet
- 4:39flower parent and a recessive al from
- 4:41the white flower parent. Since the two
- 4:44alals are different, these plants are
- 4:46all hetererozygous, meaning that they
- 4:48have heterero or different alals for the
- 4:50flower color trait.
- 4:52The phenotype of these hetererozygous
- 4:54plants was that they all had violet
- 4:56flowers because the dominant capital P
- 4:58al masks the recessive lowercase P al.
- 5:03Now when we breed any two of these
- 5:05hetererozygous plants in the F1
- 5:06generation, we can make a new Punet
- 5:09square with the capital P lowercase P
- 5:12genotype of one parent on the horizontal
- 5:14row and the same capital P lowercase P
- 5:16genotype of the other parent in the
- 5:18vertical column. When we use the pet
- 5:21square, we get one offspring with a
- 5:22capital P capital P genotype, two with a
- 5:25capital P lowercase P genotype, and one
- 5:28with a lowercase P lowercase P genotype.
- 5:32The three plants with at least one
- 5:34capital P alil will have a violet flower
- 5:36phenotype. And the one plant with a
- 5:38homozygous lowercase P lowercase P
- 5:40genotype will have a white flower
- 5:42phenotype.
- 5:44This was the ratio of plants that Mandel
- 5:46observed in the F2 generation.
- 5:49and it helped establish the law of
- 5:51segregation which states that alals
- 5:53segregate and that offspring acquire one
- 5:56alil from each parent.
- 5:59Now it turns out that in addition to
- 6:01flower color, Mandel also observed the
- 6:03seeds of his pea plant, specifically
- 6:05their color and texture. He noted
- 6:08whether the seeds were yellow, which
- 6:10we'll call the dominant big Y alil, or
- 6:13green, the recessive little Y alil, and
- 6:16whether the seeds were round, which
- 6:18we'll call the dominant big R alle, or
- 6:21wrinkly, the recessive little R al. As
- 6:25before, Mandel started with pure
- 6:26breeding plants. One of them was
- 6:28homozygous dominant for both traits,
- 6:31which means that it was capital Y,
- 6:32capital Y genotype for the color trait
- 6:35and capital R, capital R for the seed
- 6:37texture trait.
- 6:39So this plant's phenotype was that it
- 6:41had yellow round seeds.
- 6:44The other plant was homozygous recessive
- 6:46for both traits, which means that it had
- 6:48little Y little Y genotype for color
- 6:50trait and little R genotype for texture
- 6:54trait. So its phenotype was that it had
- 6:57green wrinkled seeds.
- 6:59So Mandel cross-pollinated these two
- 7:02plants and the result was that all of
- 7:04the plants in the F1 generation got
- 7:06capital Y capital R from one parent and
- 7:09lowercase Y lowercase R from the other
- 7:11parent and therefore were capital Y
- 7:14lowercase Y capital R lowercase R.
- 7:17So far so good. But then Mendel bred two
- 7:20of these F1 plants with one another and
- 7:22things got interesting.
- 7:25Let's put this in a pet square. For
- 7:27these two traits, there are four
- 7:28different combinations for each parent.
- 7:30Capital Y, capital R, capital Y, little
- 7:33R, capital R, little Y, and little R,
- 7:37little Y. When we crossbreed the plants,
- 7:41we can expect the F2 generation will
- 7:43have seeds that have four different
- 7:44types of phenotypes.
- 7:47Nine are yellow and round. These have at
- 7:49least one dominant capital Y and one
- 7:52dominant capital R. Three are yellow and
- 7:55wrinkled. Those that have at least one
- 7:57dominant capital Y and two little Rs.
- 8:01Three are green and round. Those that
- 8:03have two little Y's and at least one
- 8:05dominant big R. And one that's green and
- 8:08wrinkled. The one that has two little
- 8:10Y's and two little Rs.
- 8:13And that's what Mendel got, a 93 to 3:1
- 8:17ratio. And this helped establish the law
- 8:19of independent assortment that the genes
- 8:22for seed color and seed texture were
- 8:24assorting independently of each other
- 8:26and they weren't somehow influencing one
- 8:28another. In other words, having one
- 8:31trait did not make having another trait
- 8:33any more or less likely.
- 8:37This law is generally true except in
- 8:39certain situations like when two genes
- 8:42are located really close to each other
- 8:43on a chromosome.
- 8:46When that happens, it's called genetic
- 8:47linkage and the two genes start to move
- 8:50together more often than not and
- 8:52therefore don't assort independently.
- 8:56All right, as a quick recap, the law of
- 8:58segregation states that inherited alals
- 9:00are separated when producing gameamtes
- 9:03and the law of independent assortment
- 9:05states that the alals get distributed to
- 9:06offspring randomly and without regard to
- 9:09what other alil the offspring might have
- 9:11received.
- 9:13Helping
- 9:16current and future clinicians focus,
- 9:18learn, retain, and thrive. Learn more.
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