& testbook.com Mendel’s Law: Laws of Inheritance and its Exception, Genetic Disorders and Types 2021/06/09 Genetics is the branch of science that deals with the study of heredity and genes. Pythagoras, Aristotle, Hippocrates, Epicurus, and others have contributed to the field since the classical period. . Modern geneties was pioneered by Gregor Johann Mendel. His work on pea plants (Pisum sativum) was published in 1866. This established the theory of Mendelian inheritance. .__ Inheritance is the process by which characters are passed on from parent to progeny. Heredity is based on inheritance. Variation is the degree to which progeny differs from parents. 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Mendel Research ‘Mendel has a great interest in plant hybridisation from the start because his father was interested in the same field. Mendel conducted his historic experiments with garden peas (Pisum sativum) in the monastery garden forES eee eae eee ee eee ee reeees See Seeeel tee Onk te eee Sekar Sen Seneeeeen ana Rare Plant selected by Mendel:- Pisum sativum (garden pea). Mendel used several contrasting characters for garden peas which are represented below. Wikkicd | Gem | Comitel | Yelow | white | Temid | thor Mendel selected garden pea as material in his experiment due to the following advantages: Pea plants are easy to grow and interbreed. Peas reproduce and grow to maturity in a season (an annual plant). Several generations can be produced within a short period due to short life cycle The flowers are bisexual containing both female and male parts. They are self-fertilising in nature. Several contrasting characters are present in pea plants. Itis easy to hybridize because pollen from one plant can be introduced into the stigma of another plant by removing anthers Know all about Human Heart here. Mendel Laws Mendel first performed a monohybrid cross in which he crossed tall and dwarf pea plant and collected all the seeds obtained from this cross He grew all the seeds to produce plants of the first hybrid generation called the Fi generation, He observed that all the plants are tall. Mendel self-pollinated the F1 plants and discovered that in the F2 generation some plants are also dwarf. The proportion of dwarf plants is 1/4th and that of tall plants is 3/4th. Cal) x oe 4 4 Parental GenerationGametes eee F, generation Selfing (Tall) ATA Gametes F, generation Tt Tt tt (Tall) (Tall) (Tall) (Dwarf) ‘The monohybrid ratio of F2 hybrids is :2:1(genotypie) and:1(phenotypic). Based on the monohybrid cross, Mendel gives two laws: Law of Dominance Itstates that — Characters are controlled by diserete units called factors, Factors always oceur in pairs. ._ Ina dissimilar pair of factors, one member of the pair dominates the other member. Law of Segregation ‘The alleles do not blend and both the characters are recovered during gametes formation as in F2 generation. Law of Independent Assortment The law states that ‘when two pairs of traits are combined in a hybrid, segregation of one pair of charaeters is independent of the other pair of characters. __ Two new combinations, round green & wrinkled yellow are formed in the Dihybrid cross, due to an independent assortment of traits for seed shape i.e round, wrinkled and seed colour i.e, yellow and green.Divi Coss Points to Remember Dominance: When a factor (allele) expresses itself in the presence or absence of its dominant factor called dominance. Recessive: It can only express itself in the absence of or its recessive factor allele. Genes that code for a pair of contrasting traits are known as alleles. ‘Leam about the Blood Circulatory System here. Exceptions of Mendel Laws Mendel’s laws too had some exceptions. Here’s the list. Incomplete Dominance Itis a post-Mendelian discovery. Itis the phenomenon of neither of the two alleles being dominant so that expression in the hybrid is a fine mixture or intermediate between the expressions of two alleles In Shapdragon (Mirabilis jalapa), there are two types of pure breeding plants, white-flowered and red- flowered. On crossing the two F1 plants, it possesses pink flowers. On selfing them, the F2 generation has aired 2 pink: white, The pink flowers are due to incomplete dominance. Co-dominance Itis the phenomenon of two alleles lacking dominance-recessive relationship and both expressing themselves in the organism. Human beings, ABO blood grouping are controlled by gene I. The gene comprises three alleles IA, IB, and i. Any individual contains any two of three allele IA, IB are dominant over i. The plasma membrane of RBC has sugar polymers that protrude from its surface and the kind of sugar is controlled by the gene. When IA and IB are present together, both express their types of sugars due to co-dominance.Multiple Alleles: ‘They are multiple forms of a gene that occur on the same gene locus distributed in different organisms in the gene pool with an organism carrying only two alleles and a gamete containing only one allele. For Example- ABO blood grouping Check out Nervous System here. Genetic Disorders Genetic disorders may be grouped into two categories ~ Chromosomal disorders and Mendelian Disorders. Difference between Mendelian Disorders and Chromosomal Disorders. These are due to alteration in a single gene. These are caused due to absence or excess of one or more chromosomes. They are transmitted into generations through They may be recessive or dominant. ‘Mendelian principles of inheritance Examples:- Colour blindness, Phenylketonuria For Example:- Down syndrome, Turner's syndrome Chromosomal Disorder Aneuploidy: Failure of segregation of chromatids during cell division results in loss or gain of the chromosome. Polyploid: The failure of cytokinesis leads to two sets of the chromosome. . Down's Syndrome: It is due to an additional copy of chromosome number 21. The affected individual is short-statured with a small rounded head, partially opened mouth and furrowed tongue. Mental development is retarded. Klinefelter’s Syndrome: It is due to the presence of an additional copy of the X-chromosome (XXY). Such persons have overall masculine development with feminine development (development of breast, ie., Gynaecomastia) is also expressed. Turner’s Syndrome: It is caused due to the absence of one of the X chromosomes. 45 with XO, such females are sterile and their ovaries are rudimentary. They lack secondary sexual characters. Mendelian Disorder 1, Haemophilia: It is a sex-linked recessive disease in which, a minor eut leads to non-stop bleeding in an infected individual. It can be transmitted from a Heterozygous female (carrier) to her son. The probability ‘cfta Sernalle leespenniiner cesniuniiliie tk ietchile vane sine the pacaiaee cof tinh 2 lenedie iaaray hea leur eovierand the father should be haemophilic (unviable in the later stage of life). p, Sickle cell anaemia: Itis an autosomal linked recessive trait in which matant haemoglobin molecules undergo polymerization under low oxygen tension causing the change in the shape of the RBC from biconvex dise to an elongated sickle-like structure, Substitution of Glutamic acid (Glu) by Valine (Val) at the sixth position of the beta-globin chain of the haemoglobin molecule causes the defect. The substitution of amino acid in the globin protein results due to the single base substitution at the sixth codon of the beta- globin gene from GAG to GUG 3g, Phenylketonuria- 1tis an autosomal recessive trait. The affected individual lacks an enzyme that converts the amino acids phenylalanine to tyrosine. Due to this, phenylalanine is accumulated and converted into phenyl pyruvie acid and other derivatives that results in mental retardation of the individual. Reduced synthesis of one of the globin chains can cause the formation of abnormal haemoglobin molecules, hence causing anaemia, 4 Colour Blindness: It is a condition, in which certain colours cannot be distinguished, due to the lack of one or more colour absorbing pigments in the cone cells of the retina. In humans, the most common colour blindness is red-green colour blindness, which is a sex-linked (i.e. X-linked recessive) defect caused by a recessive gene and hence, more common in males than females. Thalassemia:~ It is an inherited autosomal codominant blood disease. The genetic defect results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. Reduced synthesis of one of the globin chains can cause the production of abnormal haemoglobin molecules, thus causing anaemia. Points to Remember Phenotype is a morphological expression of a single character. For example, tallness or shortness represents the phenotype of the plant. Genotype is the genetic make-up of a cell, an organism, or an individual (i.e. the specific allele make-up of the individual). Alleles combine to make a genotype, for example, TT or Tt or tt. So, this is all about the Genetics, Mendel’s Laws, Exception and Genetic Disorders. Get some practice of the same on our free Testbook App. Download Now! Animal Kingdom Plant Morphology Plant Tissues Human Blood Heart Diseases Plant Nutrition Genetics FAQsQ.1 What is Inheritance in genetics? Ans.t Inheritance is the process by which characters are passed on from parent to progeny. It is the basis of heredity. Q.2 What is the variation in geneties? Ans.2 Variation is the degree to which progeny differs from parents. Variation may be in terms of morphology, physiology, eytology and behavioristic traits of individuals belonging to the same species n Disorders in genetics? Mendelian Disorders are caused due to alteration in a single gene. Q.4 What are Chromosomal Disorders’ Ans.4 Chromosomal Disorders are caused due to absence or excess of one or more chromosomes. Q.5 What is equational division in genetic: Ans.5 The number of chromosomes in the parent and progeny cells is the same, it is also known as equational division a JOOO+ Totatests 4O+ FreeTosts (el) = Bike ye eee) Peery General) Sa 3) 1h) sisi Cale [alee The Complete Exam Preparation