Chapter 14 and Chapter 15 - Mendelian Genetics, Patterns of Inheritence, Pedigree Analysis, Inherited Genetic Disorders, Sex Linked Traits

Vocabulary: 1. *Trait - a heritable feature such as flower color (purple color trait, white color trait etc.) 2. *True Breeding - plants that when self-pollinated always produce the same phenotypic traits. (ie homozygous dominant or homozygous recessive_ 3. *hybridization: The mating or crossing of two true-breeding varieties (true breeding parents- P generation - produce all heterozygous F1 offspring 4. *law of segregation: Mendels first law stating that each allele in a pair (diploid) separates into a different gamete (haploid) during gamete formation 5. *Allele: alternate versions of a gene that produce different phenotypes 6. *genotype: The genetic makeup or set of alleles ( ie. Aa, AA, aa) of an organism 7. * phenotype: The physical traits which are determined by its genotype. (Remember, many phenotypes are microscopic as in the shape of a hemoglobin molecule in sickle cell) 8. * dominant allele: An allele that is fully expressed in the phenotype of a heterozygote 9. * recessive allele: An allele whose phenotype is not observed in the heterozygote 10. *homozygous: Having two identical alleles for a given gene 11. * heterozygous: Having two different alleles for a given gene 12. *monohybrid cross: The cross between two heterozygotes (F1 generation) for a single trait. Ie. Bb x Bb 13. *dihybrid cross: The cross between two heterozygous (F1 generation) for two traits Ie. YyRr x YyRr 14. *carrier: An individual who is heterozygous with one normal allele and one potentially harmful recessive allele. The individual is phenotypically normal but can pass on the harmful allele. 15. *test cross: Breeding of an organism of an unknown genotype (heterozygous or homozygous dominant) with a homozygous recessive individual to determine the unknown genotype. The ratio of phenotypes in the offspring determines the unknown genotype 16. *law of independent assortment: Mendels second law, that each pair of alleles separates independently during gamete formation. This law only when genes for two traits are located on different chromosomes. 17. *complete dominance: The situation when the phenotypes of the heterozygote and the dominant homozygote are indistinguishable. 18. *codominance: The situation where the phenotypes of both alleles are exhibited in the heterozygote 19. *incomplete dominance: The situation in which the phenotype of heterozygotes in intermediate between the phenotypes of individuals homozygous for either allele. 20. *multiple alleles: When there are three or more alleles for a single gene as in ABO blood groups.

21. *polygenic inheritance: An additive effect of two or more genes on the a single phenotypic trait 22. *pedigree analysis: predicting the genotypes of individuals in a pedigree chart based on the phenotypes of the offspring. 23. *Sex-linked Traits: A gene located on a sex chromosome. Sex linked traits express themselves more in one sex than the other-often more in males than females

4.3 Theoretical genetics

4.3.1 4.3.2 4.3.3 4.3.4 4.3.5 4.3.6 4.3.7 4.3.8 4.3.9 4.3.10 4.3.11 4.3.12 Define genotype, phenotype, dominant allele, recessive allele, codominant alleles, locus, homozygous, heterozygous, carrier and test cross. Determine the genotypes and phenotypes of the offspring of a monohybrid cross using a Punnett grid. State that some genes have more than two alleles (multiple alleles). Describe ABO blood groups as an example of codominance and multiple alleles. Explain how the sex chromosomes control gender by referring to the inheritance of X and Y chromosomes in humans. State that some genes are present on the X chromosome and absent from the shorter Y chromosome in humans. Define sex linkage. Describe the inheritance of colour blindness and hemophilia as examples of sex linkage. State that a human female can be homozygous or heterozygous with respect to sexlinked genes. Explain that female carriers are heterozygous for X-linked recessive alleles. Predict the genotypic and phenotypic ratios of offspring of monohybrid crosses involving any of the above patterns of inheritance. Deduce the genotypes and phenotypes of individuals in pedigree charts.

10.2 Dihybrid crosses and gene linkage

10.2.1 10.2.2 10.2.3 10.2.4 10.2.5 10.2.6 Calculate and predict the genotypic and phenotypic ratio of offspring of dihybrid crosses involving unlinked autosomal genes. Distinguish between autosomes and sex chromosomes. Explain how crossing over between non-sister chromatids of a homologous pair in prophase I can result in an exchange of alleles. Define linkage group. Explain an example of a cross between two linked genes. Identify which of the offspring are recombinants in a dihybrid cross involving linked genes.

10.3 Polygenic inheritance

10.3.1 10.3.2 Define polygenic inheritance. Explain that polygenic inheritance can contribute to continuous variation using two examples, one of which must be human skin colour.

*Explain the relationship between Mendels law of segregation and meiosis.

law of segregation states that one half of the alleles enter one gamete and the other half enter the other gamete; meiosis reduces the chromosome number by half / diploid to haploid; homologues carrying alleles separate (in anaphase I); end result is four cells, half with one allele/homologue and the other half with the other allele;

1. * In garden peas, the pairs of alleles coding for seed shape and seed colour are unlinked. The allele for smooth seeds (S) is dominant over the allele for wrinkled seeds (s). The allele for yellow seeds (Y) is dominant over the allele for green seeds (y). If a plant of genotype Ssyy is crossed with a plant of genotype ssYy, which offspring are recombinants? A. B. C. D. SsYy and Ssyy SsYy and ssYy SsYy and ssyy Ssyy and ssYy

2. * In peas the allele for round seed (R) is dominant over the allele for wrinkled seed (r). The allele for yellow seed (Y) is dominant over the allele for green seed ( y). If two pea plants with the genotypes YyRr and Yyrr are crossed together, what ratio of phenotypes is expected in the offspring? A. B. C. D. 9 round yellow : 3 round green : 3 wrinkled yellow : 1 wrinkled green 3 round yellow : 3 round green : 1 wrinkled yellow : 1 wrinkled green 3 round yellow : 1 round green : 3 wrinkled yellow : 1 wrinkled green 1 round yellow : 1 round green : 1 wrinkled yellow : 1 wrinkled green

3. A parent organism of unknown genotype is mated in a test cross. Half of the offspring have the same phenotype as the parent. What can be concluded from this result? A. B. C. D. The parent is heterozygous for the trait. The trait being inherited is polygenic. The parent is homozygous dominant for the trait. The parent is homozygous recessive for the trait

4. The allele for red flower colour (R) in a certain plant is incompletely dominant with the allele for white flowers (R). Thus a plant with the genotype RR has pink flowers. Tall (D) is dominant to dwarf (d). What would be the expected phenotypic ratio from a cross of RRdd plants with RRDd plants? A. B. C. D. 9:3:3:1 50 % pink 50 % white, and all tall 1:1:1:1, in which 50 % are tall, 50 % dwarf, 50 % pink and 50 % white 3:1

5.* A polygenic character is controlled by two genes each with two alleles. How many different possible genotypes are there for this character? A. B. C. D. 2 4 9 16

6.* A woman who is a carrier of hemophilia marries a man who is not affected. What are the possible genotypes of their children? A. B. C. D. X X , X X , X Y, X Y X X ,X X ,X Y ,X Y X X ,X X ,X Y ,X Y X X , X X , X Y, X Y
H h h h H h H h h h H h h h H h H H H h H H H h H H H h

7. A cross is performed between two organisms with the genotypes AaBb and aabb. What genotypes in the offspring are the result of recombination? A. B. C. D. Aabb, AaBb AaBb, aabb aabb, Aabb Aabb, aaBb

Answer Key: 1. c 2 c 3 a 4. c 5. c 6. a 7. d

In Zea mays, the allele for coloured seed (C) is dominant over the allele for colourless seed (c). The allele for starchy endosperm (W) is dominant over the allele for waxy endosperm (w). Pure breeding plants with coloured seeds and starchy endosperm were crossed with pure breeding plants with colourless seeds and waxy endosperm. (a) State the genotype and the phenotype of the F1 individuals produced as a result of this cross. genotype phenotype CcWw all are coloured starchy
(2)

(b) The F1 plants were crossed with plants that had the genotype c c w w. Calculate the expected ratio of phenotypes in the F2 generation, assuming that there is independent assortment.
gametes are C W, C w, c W, c w and c w; F2 genotypes are CcWw, Ccww, ccWw and ccww; 1 coloured starchy: 1 coloured waxy: 1 colourless starchy: 1 colourless waxy;

Pedigree Analysis for a Sex-Linked Trait

The diagram below shows the pedigree of a family with red green colour-blindness, a sexlinked condition. A male and female with normal color vision each have a father who is color blind. They are planning to have children. Predict, showing your working, the possible phenotypes and genotypes of male and female children. K ey m a le fe m a le a ffe c te d m a le a ffe c te d fe m a le
C C c

parent genotypes (X Y and X X ) / same genotypes using alternative symbols / C c C C C c four offspring genotypes (X X , X X , X Y,X Y); Punnett square showing cross / other acceptable working; all/100 % daughters normal colour vision (phenotype); half/50 % the sons normal and half/50 % are colour blind (phenotype); Pedigree Analysis with Multiple Alleles The following diagram represents a two generation pedigree showing the blood groups of the individuals. The female has been married to two different individuals. O 1 s t g e n e ra tio n 1 B 2 n d g e n e ra tio n 1 (a) 2 3 4 O 2 A 3 A B A A B K ey M a le F e m a le 3 max

Deduce with a reason the probable father of 2nd generation-1. 1st generation3 / father 3; father 1 can only donate an O allele / B allele cannot come from O parent;

(b)

If 2nd generation-3 marries a man with blood group AB, predict the possible

genotypes of the children. I I / AA; A B I I / AB; A O B O A B I I and I I / AO and BO / I i and I i;

A A

Pedigree analysis of a Sex-linked Trait

1 s t g e n e ra tio n 1 2 K ey n o r m a l m a le n o rm a l fe m a le 2 n d g e n e ra tio n 1 2 3 4 5 m a le w ith c o n d itio n fe m a le w ith c o n d itio n

3 rd g e n e ra tio n 1 2 3 4

(a)

Define the term sex-linkage.

A gene / trait / allele carried on a sex chromosome (b) Deduce, with a reason, whether the allele producing the condition is dominant or recessive. recessive; evidence from the pedigree such as the 2nd generation-2 and 3 do not have the condition but have one child who does

(c)

(i)
a

Determine all the possible genotypes of the individual (2nd generation1) using appropriate symbols.

X Y (where a = condition); (ii) Determine all the possible genotypes of the individual (3rd generation-4) using appropriate symbols.

X X or X X where A = normal, a = condition (must have both);

A a

A A