Quick Revision

29

CHAPTER 5
Quick Revision Notes PRINCIPLES OF INHERITANCE AND VARIATION Important Terms 1) 2) 3) 4) 5) 6) 7) 8) 9) Alleles The different or alternate forms of a gene. Genes - Units of inheritance which contain the information to express a particular trait in an individual. Homozygous Individual in which the members of a pair of alleles for a character are similar. Heterozygous Individual in which the members of a pair of alleles for a character are dissimilar. Phenotype The observable or external characteristics of an organism. Genotype The genetic constitution of an organism. Dominant allele The allele which expresses itself in a hybrid where the members of a pair of alleles for the character are different. Recessive allele Allele which does not express itself in a hybrid, where the members of a pair of alleles for the character are different. Monohybrid cross Cross between two individuals of a species, when considering the inheritance of a single trait.

10) Dihybird Gross Cross between two individuals of a species,when considering the inheritance of contrasting pairs of two traits. 11) Emasculation Process of removal of anthers from a bisexual flower before the pollen grains mature. 12) Incomplete dominance When neither of the two alleles of a gene is completely dominant over the other. 13) Co-dominance When two alleles of a gene are equally dominant and express themselves equally. 14) Multiple allelism When a gene has more than two alleles, it is called multiple allelism. 15) Linked genes Genes present on a chromosome and which tend together. 16) to get inherited

Linkage Phenomenon, where two or more linked genes tend to get inherited together and their recombination frequency in a test cross is less than 50%.

17) Non disjunction It is the phenomenon in which the members of a homologous pair of chromosomes do not separate during meiosis. 18) Aneuploidy Phenomenon of gain or loss of one or more chromosomes that results due to non-disjunction of chromosomes. 19) Trisomy Condition where a particular chromosome is present in three copies in a diploid cell. 20) Monosomy Condition where a particular chromosome is present in one copy in a diploid cell. 21) Male heterogamety A condition where the male produces two different types of gametes.

30

BiologyXII

22) Female heterogamety A condition where the female produces two different types of gametes. 23) Autosomes Chromosomes that are not involved in the determination of sex of an individual are called autosomes. 24) Sex chromosomes - Chromosomes that are involved in sex determination of an organism. 25) Pedigree analysis Analysis of the distribution and movements of traits in a series of generations in a family. Mendels laws of inheritance 1) Law of Dominance It states that when two individuals of a species, differing in a pair of contrasting characters are crossed, the form of the trait that appears in the F1, hybrid is dominant and the other form that is not expressed is recessive. In a cross between tall and dwarf garden pea plants in the F1 generation only tall plants are seen. This means that tall form is dominant over dwarf form. Although the parents contain two alleles or a pair of factors during gamete formation, the factors or alleles separate at the time of gamete formation such that only one of the factors enters a gamete. On random fertilisation, the paired condition is restored.

2)

Law of Segregation

A monohybrid cross conducted by Mendel between true-breeding tall plants and truebreeding dwarf plants

Quick Revision

31

3)

Law of Independent Assortment It states that in the inheritance of two pairs of contrasting characters, the factors of each pair of characters segregate independently of the factors of the other pair of characters.

Results of a dihybrid cross, where the two parents differed in two pairs of contrasting traits: seed colour and seed shape Test cross A cross devised by Mendel to find out the genotype of the F1 or offspring. Here the F1 or the

32

BiologyXII

offspring with unknown genotype is crossed with an individual homozygous recessive for the trait. DEVIATIONS FROM MENDELS LAWS 1) Incomplete dominance Example- Snapdragon (Antirrhinum majus ) Cross between red flowered plant and white flowered plant gives F1 ratio-all pink; and when pink flowered F1 plants are selfed, the F2 ratio is 1 red : 2 pink: 1 white. The phenotypic and genotypic ratios are the same in this case. Example - Inheritance of ABO blood groups in man. Gene for blood group has three alleles IA,IB and i. Therefore it is an example of multiple allelism. When alleles IA and IB are together, they are equally dominant and both glycoproteins A and B are produced and hence the person has AB blood group which is an example of co-dominance.

2)

Multiple Allelism and Co-dominance

CHROMOSOMAL THEORY OF INHERITANCE Given by Sutton and Boveri in 1902. Gave following similarities between genes and chromosomes (i) Both occur in pairs in normal diploid cells. (ii) Both segregate during gamete formation and the paired condition is restored at the time of fertilisation. (iii) Members of each pair segregate independently of the other pair. MORGAN AND HIS WORK Did his experimental work on Drosophila melanogaster (fruit fly ) because: (i) (ii) They could be grown on simple synthetic medium in one corner of the lab. Their life cycle could be completed in about 2 weeks.

(iii) A single mating could produce large number of fruit flies. (iv) Male and female flies are distinct in a number of characters which are easily observable. Linkage and Recombination Tendency of two genes to be inherited together is called linkage. It can be due to presence of the two genes on the same chromosome and with very less distance between them. Recombination is the property of the genes to produce new combinations by segregating independent of each other. It is due to(i) Presence of the 2 genes on different chromosomes. (ii) When present on the same chromosome, have large distance between them. SEX DETERMINATION Henking discovered the X chromosome but could not explain its role. Later X chromosome was designated as the sex chromosome and all the rest of the chromosomes as autosomes . Types of sex determinations

Quick Revision

33

X O type Example - Large no of insects like Grasshopper. Males have XO type of sex chromosome i.e. have only one X chromosome whereas the females have XY type i.e. the males have one chromosome less than the females.

X Y type Eg.- Mammals like human beings. Males and females have equal number of chromosomes. Males are heterogametic i.e. have XY type of sex chromosomes and form two different gametes: autosomes + X and autosomes+Y. Females are homogametic and have XX chromosomes.

2 W type Eg.- Birds. Males and females have equal number of chromosomes. Here males are homogametic i.e. have ZZ type of sex chromosomes and females have ZW type of sex chromosomes.

Mutation A phenomenon which results in the alteration of DNA base sequences or a change in the base which results in the change of genotype and phenotype of an organism. Many chemical and physical factors induce mutations .Eg. UV radiations. These are called mutagens.

Pedigree analysis It is done to study inheritance pattern of traits in human beings. The inheritance pattern of a trait is represented in the family tree over generations. Genetic disorders A) Mendelian Disorders Haemophilia Sex linked recessive disease Passed from carrier female to male progeny . Individual with a simple cut has non-stop bleeding as a protein involved in clotting of blood is affected. Was seen in Victorias family. Queen Sickle cell Anaemia Autosome linked recessive trait. Disease controlled by a single pair of allele HbA and HBS . Defect caused by substitution of Glutamic acid by Valine at the 6th codon of beta-globin chain. Shape of the RBC changes to elongated sickle shape Phenylketonuria Autosome recessive trait. Caused due to lack of an enzyme that converts amino acid phenylalanine to tyrosine. Results in mental retardation and byproducts are excreted through urine as it poorly absorbed by the kidneys.

(B) Chromosomal disorders Aneuploidy is the loss or gain of a chromosome in a cell and results from failure of segregation of chromatids during cell division. Examples of chromosomal disorders:

34

BiologyXII

Downs Syndrome First described by Langdon Down. Is caused due to the presence of an additional copy of 21st chromosome. Affected individuaal is short, has a small round head, furrowed tongue, mouth partially open. Physical, psychomotor and mental development retarded. Broad palm with characteristic palm crease.

Klinefelters syndrome Caused due to the presence of an additional copy of X-chromosome resulting in XXY condition. Individual has an overall masculine development with feminine characters like gynaecomastia. Individuals are sterile.

Turners syndrome Chromosome number is 45 because of the absence of one X chromosome in females, resulting in XO condition Females are sterile with rudimentary ovaries Secondary sexual characters are also not developed.