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Consortium for Educational Communication Frequently asked questions (FAQs) Q.1. What is crossing over and what are its consequences? Ans. Exchange of chromosomal segments between chromatids of homologous chromosomes is called Crossing-over. It occurs at pachytene stage of prophase I in meiosis; each event involves two of the four chromatids. Any chromatids may be involved in crossing over.The genetic consequence of crossing over is that each chromosome that goes into a gamete is a combination of maternal and paternal chromosomes. Q.2. What is the significance of a test cross? Ans. A testcross is a cross between F1 hybrid and homozygous recessive parent. Test cross helps in detection of linkage relationship between two genes.If the two genes are not linked, during a test cross all four possible combinations of the two traits will be present in equal numbers in the progeny. A significant deviation in this ratio (more parental and fewer recombinant types) indicates linkage. Q.3. What is coupling and repulsion? Ans. The condition of having the dominant alleles for both genes on the same parental chromosome, with both recessives on the other parental chromosome, is called “coupling”, e.g. P and L genes when present on same chromosome are “in coupling phase”. The opposite condition, having one dominant and one recessive on each parental chromosome, is called “repulsion”. e.g. if the original parents were P l x p L, their offspring would have the genes in repulsion phase: Pl / pL. Q.4. Differentiate between homozygous and heterozygous nature of a gene. Ans. In a diploid species, each individual carries two copies of each gene (with some exceptions). The two copies of a gene also called alleles are located on two members of a homologous chromosome pair. If the two copies of the gene are identical alleles, then the individual is homozygous for the gene. If the two copies are different alleles, then the individual is heterozygous for the gene Consortium for Educational Communication Q.5. Differentiate between genotype and phenotype. Ans. Genotype is the genetic makeup of an individual with reference to one or more specific traits. A genotype is designated by using symbols to represent the alleles of the gene. Phenotype is the external appearance of a trait in an individual. Phenotypes can be determined by a combination of genetic and environmental factors Q.6. Differentiate between a gene and an allele. Ans. A gene is a unit of inheritance or a factor transmitted during reproduction and responsible for the appearance of a given trait. At molecular level it is a segment of a DNA molecule usually at a specific location (locus) on a chromosome and is characterized by its nucleotide sequence. Genes play three notable roles: • To encode the amino acid sequences of proteins • To encode the nucleotide sequences of tRNA or rRNA • To regulate the expression of other genes Allele is a variant form of a gene found within a population. Alleles of a gene usually have small differences in their nucleotide sequences. The differences can affect the trait for which the gene is responsible. Most genes have more than one allele. Q.7. What is recombination and what are its consequences? Recombination means that meiosis generates gametes with different allelic combinations than the original gametes the organism inherited. If the organism was created by the fusion of an egg bearing AB and a sperm bearing ab, recombination generates gametes that are Ab and aB. Recombination may be caused by loci on different chromosomes that sort independently or by a physical crossing over between two loci on the same chromosome, with breakage and exchange of strands of homologous chromosomes paired in meiotic prophase I. Consortium for Educational Communication Q.8. In a testcross for two genes, what types of gametes are produced with (a) complete linkage, (b) independent assortment, and (c) incomplete linkage? Ans. (a) Complete linkage of two genes means that only non recombinant gametes will be produced; the recombination frequency is zero. (b) Independent assortment of two genes will result in 50% of the gametes being recombinants and 50% being non recombinants, as would be observed for genes on two different chromosomes. Independent assortment may also be observed for genes on the same chromosome if they are far enough apart that one or more crossovers occur between them during meiosis. (c) Incomplete linkage means that greater than 50% of the gametes produced are non recombinants and less than 50% of the gametes are recombinants; the recombination frequency is greater than 0 and less than 50%. Q.9. What effect does crossing over have on linkage? Ans. Crossing over generates recombination between genes located on the same chromosome, and thus renders linkage incomplete. Q.10. Why is the frequency of recombinant gametes always half the frequency of crossing over? Ans. Crossing over occurs at the four-strand stage, when two Consortium for Educational Communication homologous chromosomes, each consisting of a pair of sister chromatids, are paired. Each crossover involves just two of the four strands and generates two recombinant strands. The remaining two strands that were not involved in the crossover generate two non recombinant strands. Therefore, the frequency of recombinant gametes is always half the frequency of crossovers. Q.11. What is the difference between genes in coupling configuration and genes in repulsion? What effect does the arrangement of linked genes (whether they are in coupling configuration or in repulsion) have on the results of a cross? Ans. Genes in coupling configuration have two wild-type alleles on the same chromosome and the two mutant alleles on the homologous chromosome. Genes in repulsion have a wild-type allele of one gene together with the mutant allele of the second gene on the same chromosome, and vice versa on the homologous chromosome. The two arrangements have opposite effects on the results of a cross. For genes in coupling configuration, most of the progeny will be either wild type for both genes, or mutant for both genes, with relatively few that are wild type for one gene and mutant for the other. For genes in repulsion, most of the progeny will be mutant for only one gene and wild-type for the other, with relatively few recombinants that are wildtype for both or mutant for both. Consortium for Educational Communication Q.12. How can one test whether two genes are linked? Ans. One first obtains individuals that are heterozygous for both genes. This may be achieved by crossing an individual homozygous dominant for both genes to one homozygous recessive for both genes, resulting in a heterozygote with genes in coupling configuration. Alternatively, an individual that is homozygous recessive for one gene may be crossed to an individual homozygous recessive for the second gene, resulting in a heterozygote with genes in repulsion. Then, the heterozygote is mated to a homozygous recessive tester and the progeny of each phenotypic class are tallied. If the proportion of recombinant progeny is far less than 50%, the genes are linked. If the results are not so clear-cut, then they may be tested by chi-square, first for equal segregation at each locus, then for independent assortment of the two loci. Significant deviation from results expected for independent assortment indicates linkage of the two genes. Q.13. Explain briefly the law of segregation. Ans. Mendel’s first principle of inheritance is called ‘the law of segregation’. It states that “the allelic genes in zygote do not blend or contaminate each other but segregate and pass into different gametes”. The segregation occurs at the meotic division. Q.14. Explain briefly the law of dominance. Ans. A second principle recognized by Mendel is called ‘law of dominance’. The law emphasizes that the two alleles of a particular gene may not be identical and may impart different character to a particular trait e.g., one allele of a particular gene, say R, may impart red colour to a flower Consortium for Educational Communication while its allele, r, may be responsible for white colour to the flower. When either is present in a homozygous condition, the colour of the flower is either red (RR) or white (rr). On the other hand, if they are present in a heterozygous condition (Rr), the expression of the white colour is masked by the dominant red colour and the flower emerges as red. In this case, red colour allele (R) is said to be dominant and white colour gene (r) is said to be recessive. Q.15. Explain briefly the law of independent assortment. Ans. Mendel’s third principle is known as the law of independent assortment. It states that, “during meiosis one of the chromosomes in the pair is contributed independently in the gamete without being influenced by other chromosomes or cytoplasmic factors”. To explain this law, it may be recalled that the chromosomes and the genes always exist in pairs (all allelomorph) and at the time of reduction division during gamete formation, any one partner of the pair goes to one gamete and the other to the other gamete. Thus, the gametes formed may have similar number of chromosomes and the genes but may not be identical. Thus, if there are two pairs of allelic genes, four types of gametes with different genetic composition are formed, provided both the pairs are heterozygous. If the number of allelic pairs is n, the possible number of gametes is 2n. This is due to uninhibited combination of any one allele for each pair of gene and is called independent assortment. Q.16. What is a centimorgan (cM)? Ans. Morgan is considered as the founder of drosophila genetics and in his honor, a recombination map unit is called a centimorgan. A map unit or centimorgan is equal to crossing over between two genes in 1% of the gametes. or. One centimorgam (1cM) is the distance between genes for which the recombination frequency is 1%.