vv vyy iy vy y @ GENETICS AND INHERITANCE Introduction Genetics is the study of heredity and variation in living organisms Inheritance - the set of characteristics that have been passed from parent to offspring Heredity ~ the transmission of characteristics from parents to their offspring Every child inherits genes from their biological parents that express specific traits. Some of these trains may be physical for example eye colour or hair colour etc, Some genes may also carry certain risk of disorders and diseases. Johann Gregor Mendel the “father of genetics” demonstrated that traits are transmitted from parents to offspring independently of other traits and in dominant and recessive patterns Mendet’s observations ‘The characteristics of an organism are passed on from one generation to another by genes. The genes exist in pairs. (TT/Tt/tt) One of the genes comes from the father and one comes from the mother Ifa dominant and recessive gene of a trait exist together (Tt), the dominant (T} form mask the recessive trait (t). ‘The recessive gene can be present even though it is not physically visible (Tt. Becolor v Gene is a segment of DNA that controls a specific hereditary characteristic Genome is the complete set of genes of a particular organism Blood type v Hair color ADAPTED BY MR S.J SILAULEgene par Homologous chromasomes with two genes of a gene pair that determine the specific hereditary characteristic x From a gene pair, one gene Is paternal and the other Is maternal ‘The gene occurs in two (sometimes more) different forms that affect the same characteristic in different ways Allele is the alternative forms of the same gene But a particular gene has a specific position on a chromosome Locus Is the specific position of a gene on a chromosome +9 vy e Gene: Height t v a % ! ‘ T-tall short 7 Tt tt Genotype Tall Tall Short Phenotype (homozygous) (Heterozygous) (Homozygous) Dominant - the alfele of a gene pair that can mask another and be visible in the organism (T) Recessive the allele that Is masked and Is not visibly expressed in the organism (t) Homozygous - when two alleles for a particular characteristic on the homologous chromosomes are the same (PURE BREED/TRUE BREEDING) Heterozygous - when two alleles on the homologous chromosomes differ from each other (HYBRID) Genotype — the genetic composition of the gene pair for a specific tralt Phenotype - the physical characteristics of an organism determined by its genotype as well as its environment vvy vy Mendet’s law of Dominance ~ in heterozygous condition the dominant allele expresses itself in the phenotype, masking the effect of the recessive allele ‘OR ‘When two individuals with pure breeding contrasting characteristics are crossed, the F1 generation all display the dominant characteristic3 Mendel’s law of segregation > During gametogenesis the two alleles of a gene separate so that each gamete will receive one allele of a gene for a specific characteristle/tralt Alleles: TR P]e Atwmologous chromosome T= lall pair in a somatic cell of 2 Le short heterozygotc tal pea plant. Homologous chromosomes are double-stranded after replication. Each rornosome consists of 2 identical Appr tAAt oh ( chromatids joined by 2 centromere. A ‘Remember: Crossing over’ takes place in meiosis I, which may result in T MEIOSIS | 4 and t exchanging positions on homologous chromosomes. “Two chromosomes of the homologous pair separate during ‘Anaphase | and become part of 2 separate [Link] the alleles ofthe gene pair separate too .. Tand tare separated Chromatids separate and four haploid gametes are formed, each has only one allele of the gene pair. halfof the pea plant's ‘gametes carry the T-allele while the other half camry the t-allele. ADAPTED BY MR S.J SILAULEMonohybrid Crosses > Across where only one hereditary characteristic is investigated at a time * Identify gene being investigated © Underline key words © Use template Template; Gene: P1 Phenotype: x Genotype Meiosis Gametes : x Fertuiliaztion: Fl Genotype: Express as either ratio, fraction Phenotype: — or percentage ADAPTED BY MR S.J SILAULETypes of dominance Complete dominance > Ifone allele is dominant and the other is recessive, such that the effect of the recessive allele is masked by the dominant allele in the heterozygous condition > Results in only the effect of the dominant allele expressed in the phenotype > The effect of the recessive allele is only expressed in the phenotype if the gene pair is double recessive (tt). Female bb Bb Bb Bb Bb Incomplete dot nce > none of the two alleles of a gene is dominant over the other, resulting in an intermediate phenotype in the heterozygous condition P generation NV N a |. White ww camer ny F, generation a. Pink RW ADAPTED BY MR S.J SILAULECo-dominance > Bothalleles of the gene pair are equally dominant and both are expressed in the phenotype in that heterozygous condition 1. Human karyotype DAV OE RYAN 8) a8 INA 12 aials 9 | 40 | 1 AHN AN OO BF S055 KX ae aa De 23 > Somatic cells are all body cells except sex cells in an organisms > Gametes are sex cells (sperm cell or egg cell) v Humans have a double set chromosomes which is a Diploid number (2n) Humans have 46 chromosomes which is 2n = 46 vy Since they are diploid it means they are paired. v Each chromosome pair is similar in shape, size and genetic composition ADAPTED BY MR S.J SILAULE¥ Each chromosome of the pair is inherited from the mother (maternal) and the other from the father (paternal) This pair of chromosomes is referred to as a Homologous pair Gametes only have a single set of chromosomes which is referred to as Haploid number (n) Human games have 23 chromosomes (n=23) A human karyotype is a complete diploid set of chromosomes, arranged according to their size, shape and number in homologous chromosome pairs within a somatic cell of an organism v vv v RR TC Mk we AK ae ToT Wok te eo on 6 7 8 8 10 11 12 Gh aa 48 wee 13 14 15 16 17 18 Ba Be ~” on 19 «20 22 9 10 11 12 Ah AA an Xx A aK 13 14 «15 16 17 Re XR a 19 20 21 22 23 MALE XY FEMALE XX ¥ ‘The human karyotype consists of 22 pairs of Autosomes and one pair of Gonosomes v Autosomes ~ all chromosomes except sex chromosomes and are located from position 1 to 22 v Gonosomes - sex chromosomes that determine gender and are located on position 23 in humans v A female has two X Gonosomes, meaning female has 44 + XX ® Amale has one X and one ¥ gonosome, meaning a male has 44 + XY » All normal human somatic cells contain 46 chromosomes or two sets of 23 chromosomes. One set of 23 chromosomes comes from the father and the other set of 23 chromosomes comes from the mother. ADAPTED BY MR S.J SILAULESex determination » Amale has 44 +XY chromosomes and therefore his gametes will either have 22+X or 22+Y » A female has 44 + XX chromosomes and therefore all her gametes will always have 22+X Gene: Gender P1 Phenotype: Male x Female Genotype: XY x XX Meiosis Gametes: XorY x XorX Fertuiliaztion: = x XX XY x XX XY F1 Genotype: 50% XX : 50% XY Phenotype: 50% female :; 50% male > Therefore during spermatogenesis half of the sperm cells produced will have the X chromosome and the other half will have Y chromosomes > tis for that reason that the male determines the gender of offspring since it depends on whether the sperm cell that fertilizes the egg cell which always has an X chromosome contains an X or ¥ chromosome in its haploid nucleus. > Therefore there is always a 50% chance of getting a male or female offspring since half of the male gametes carry the X chromosome and the other half carry the Y chromosome and the female gamete will always carry the X chromosome. ADAPTED BY MR S.J SILAULESex-linked Inheritance x recessive gene for colour blindness Y ino genes for colour blindness Gonosomes of a colour blind male v Gonosomes not only control gender, but also carry other genes which are known as sex linked genes The Y chromosome is very small and almost carries no other genes The X chromosome is larger and carries many other genes vv Genetic disorders are thus mainly carried on the X chromosome Ifa disorder is caused by a recessive like Haemophilia it will be carried on the X chromosome, therefore it will affect male more than females since a male has a single X and Y chromosome and thus needs only one recessive allele to have the disorder. While a female has two X chromosomes (XX) and therefore needs to have two recessive alleles to have the disease. > Therefore there is a higher probability for a male to in inherit a sex linked disorder than a v female. A. Haemophilia A condition where blood takes a long time to clot due to lack of clotting factors v » Agene mutation caused by a recessive allele on the X chromosome. H= normal dominant allele h= abnormal/affected allele, x"—Normal___x"- abnormal/affected Y- doesn’t carry any allele for the disorder MALE FEMALE x"Y—a normal male x"X" — normal female x"Y - abnormal/affected/haemophialiac male x"x"— normal female but a carrier of the disorder x"x" - abnormal/affected/haemophialiac female ADAPTED BY MR S.J SILAULE10 B. Red-green colour blindess > Visual defect resulting in an inability to distinguish between certain colours > Also caused by a recessive allele carried on the X chromosome D—normal dominant allele ° - Normal x". abnormal/affected x’ d- abnormal/affected allele, Y- doesn’t carry any allele for the disorder MALE FEMALE X°Y =a normal male x*Y ~ abnormal/affected/haemophialiac male X°X" = normal female xx* normal female but a carrier of the disorder x abnormal/affected/haemophialiac female Blood grouping > Co-dominance and complete dominance occur in the inheritance of blood groups in humans > There are four different blood group phenotypes and are controlled by one gene (AOB gene) with three possible alleles (Multiple alleles) > Multiple alleles - when a gene has more than two possible alleles to control a hereditary characteristic Blood group (phenotype) Genotype A PATA 8 PR Pi a8 ne ° ii > Allele A“ and allele A“ are both dominant over allele i (complete dominance) Allele A* and A® are co-dominant > Blood groups are therefore an example of a gene with multiple alleles, the alleles occur at the same locus on a particular homologous chromosome pair vv PATERNITY TESTING > Blood groups can be used in paternity testing if the blood types of the child and both parents are known > But it is not very effective because it only excludes a man as the parent but it cannot confirm that a particular man is the father, since a large portion of the population has the same blood type. ADAPTED BY MR S.J SILAULE1 Dihybrid Crosses » Investigating two pairs of contrasting characteristics, carried on different homologous pairs » Seed colour: G= yellow 9 = green » Seed shape: R = smooth = wrinkled | | Genotype: GGRR Genotype: ggrr J y x rid Ur ‘ ALL GgRr Mendel's Principle of Independent Assortment > Characteristics for which the gene pairs occur on different homologous chromosomes will be inherited independently of each other ADAPTED BY MR S.J SILAULE12 Pedigree diagram > Pedigree diagram traces the inheritance of characteristics over many generations Interpretation of pedigree diagrams PEDIGREE STEPS ‘The diagram below shows the pattern of [1 | Identify if the disorder Is Autosomal or sex-linked Inheritance of deafness in a family. The * If Autosomal do not use X and ¥ chromosomes letter H represents the allele for hearing © Ifsex-linked make use X and Y chromosomes plus the and h represents the allele for deafness. given alleles ‘KEY: Identify if the disorder is caused by a dominant or affected female recessive allele 0 Normal female In this example it is Autosomal since it was not mention that it is sex- linked or affects the X chromosome. Also It Is caused by a recessive O Normal male i affected male | allele 3 ] Write down all possible genotypes © Normal—HH/Hh and affected - hh Choose one that has only one possible genotype then fill on the diagram. * _Inthis case it is hh, therefore Lyall’s genotype is hh © The other possible genotypes left to fill in are HH and Hh. * Notice that in both genotypes the first allele is always dominant H. Therefore fill everyone on diagram with the first allele as H and leave space next to the allele H_all the individuals left Now start solving for the missing allele by starting with last generation. So we solve going up. To solve we use the notion that each individual will inherit a single allele from each parent © | We now use any one with two recessive alleles to fillin the missing allele In this case it’s Lyall (hh) whose genotype suggests that he Inherited one recessive allele from each of his parents. Thus Gabby and Paul's genotypes are Hh. Since Mieke’s parents (Gabby & Paul) are both heterozygous it means she can have HH/Hh as her genotype since she can inherit any alleles from them with exception of two recessive alleles. Now move up to the next generation. In the next generation Lyall we are left with Fiona’s genotype to find but we know she has H_. Since in this generation there is no homozygous recessive we can use her parents in the next generation. Linda has two recessive alleles which means all her offspring will always have at least a single recessive allele and thus Fiona’s genotype is Hh. ADAPTED BY MR S.J SILAULEB PEDIGREE STEPS The diagram below shows the pattern of inheritance of the sex-linked disorder Haemophilia in a family. The letter H represents the allele for normal and h represents the allele for affected. Normal male i affected male 9 1] © _ Identify if the disorder is Autosomal or sexlinked ‘© If Autosomal do not use X and ¥ chromosomes. * Ifsex-linked make use X and Y chromosomes plus the given alleles 2 [© Identify if the disorder is caused by a dominant or recessive allele Tm this example ICs sexclinked and It is caused by a recessive allele 3 | Fillinall the X and V chromosomes on the diagram based on the key. Males = XY and Females Xx 4 | Write down all possible genotypes ‘= Normal female ~ x"x"/x"x" and affected female x"x” * Normal male - XV and Affected male XY Choose one that has only one possible genctype then fill on the diagram. In this case iti the male’s genotypes for both normal and affected as well as the genotype an affected female. Use the keyto fillin, This means individuals 1, 3 & 8 have the genotype X"Y ‘Individual 5 have the genotype X"Y Individual 4 has genotype X"x* We are now left with individuals that can have either XX" 7X"™" as ‘their possible genotypes 5 | © Notice that in both genotypes the first allele is always dominant H. 6 | Therefore fill everyone on diagram with the first allele as X" and leave space next to the allele X''X all the individuals left Now start solving for the missing allele by starting with last generation. So we solve going up. To solve we use the notion that a male inherits an X chromosome from his mother and a Y chromosome from his father. 7 | We now use the males to fill in the missing allele of the females. In this case individual 8 (XY) suggests that he inherited a recessive h from his mother which Is individual 6, Therefore individual 6 has the genotype xX’, Individual 7 inherited x" from her father (individual 5) and therefore can inherit either X" or x" and still be normal and hence the genotype of individual 7 can be X"xX" either or X"X". Individual 2 is the mother of both individual 3 & 5 and since they both have different X chromosomes (X"& X") and they received their Y chromosomes from their father {individual 1). Their X chromosomes represent the genotype of individual 2 which is x"x" ADAPTED BY MR S.J SILAULE