BE Sex Linkage Key Idea: Many genes on the X chromosome do not have ‘a match on the ¥ chromosome. In males, a recessive allele Cannot therefore be masked by a dominant allele. Sex linkage is a special caso of linkage occurring when a. ‘gene is located on a sex chromosome (usually the X). The result is that the character encoded by the gene is usually Hemophilia is an inherited genetic disorder Inked to the X-chromosome that results in inefctve blood clotting when a blood ‘vessel is damaged. The most common type, hemophilia A, occurs in 1 in 5000 male births. Any male who cartes the gene will express the phenotype. Hemophilia is extremely rare in wornen. 1. A couple wish to have children, The woman knows she a ‘aarfir for hemophilia. The man is not a hemophiliac. Use the notation X" for hemophilia and X* for the dominant allele to complete the diagram on the right including the parent genotypes, gametes and possible fertlizations Write the genotypes and phenotypes in the table below. Genotype Phenotypes Male children tert Female children (a) A second couple also wish to have children. The ‘woman knows her maternal grandfather was a hemophilize, but neither her mother or fathor wore. Determine the probability she is a carrier (XX) Use the Punnett squares, right, to help you! (0) The man is a normal non-hemoptiliae male, Determine the probability that their frst male child will have hemophilia. Use the Punnett squares, right, to help you: The gene for red-green colour vision is carried on the X chromosome. If the gene is faulty, colour blindness (X°) will occur in males. Red-green colour blindness occurs in ‘about 8% of males but in less than 1% of females. ‘A colour blind man has children with a woman who is, not colour blind. The couple have four children. Their phenotypes are: 1 non colour blind son, 1 colour blind ‘son, 2 non coJour blind daughters. Describe the mother's: (a) Genotype: (0) Phenotype: (6) Identity the genotype not possessed by any of the cchilérén: © 20122014 BIOZONE Internationa ProzocopyingPohtsed Posse ‘seen only in the heterogametic sex (XY) and occurs rarely in the homagametic sex (XX). In humans, recessive sox inked genes are responsible for a number of heritable disorders. in males, e.g. hemophilia. Women who have the recessive alleles on their chromosomes are said to be carriers. Parents x Cartier female Normal male Patera gastos O O Maternal garetee to Paternal gametes Patel gomoias oo re : . Patemal gametes: . c Matera gametes Parents X si Colour ind male Non colour biinc femaleDominant allele in humans ‘A rare form of rickets in humans is determined by a dominant allele of a gene ‘on the X chromosome (itis not found on the Y chramasome). This condition is not successfully treated with vitamin D therapy. The allele types, genotypes, and Phenotypes are as follows: Allele types Genotypes XP = affected by rickets, XPXR, XK = X= normal xy = XX XY = ‘As a genetic counsollor you aro presented with a married ‘couple where one of them has a family history of this disease. The husband is affected by this disease and the wile is normal. The couple, who are thinking of starting a fami a child born with this condition. They would also like to know what the probabilities are of having an affected boy or affected girl. Use the symbols abova to complete the diagram right and determine the probabilities stated below (expressed as a proportion or percentage). 4. Determine the probabilty of having (a) Affected children: (b) An afected gi: {o) An affected boy: Another couple with a family history of the same disease also come in to see you to obtain genetic counseling, In this case the husband is normal and the wife is affecied. The wife's father was not affected by this disease. Determine what their chances are of having a child born with this condition. They would also Ike to know what the probabilities are of having an effected boy or affected girl. Use the symbols above to complete: the diagram right and determine the probabilities stated below (expressed as a proportion or percentage), 5. Determine the probability of having: (@) Affected children: (©) An atfocted gir (©) An affected boy: 6. Describing examples other than those above, discuss ‘would lke to know what their chances are of having Phenotypes Alfected female A¥fected male Normal female, male ‘Alectod haben Peronte Pocsiie tenitraons TT eoLelele & ete ite ermal (nose aor roster ‘nas normal) Parents Garetee Posse tertatons —F OOO the role of sex linkage in the inheritance of genetic disorders: © 20122014 OZONE Iteration isons 976-1927173.930 Photocopying pried94 | Inheritance Patterns Key Idea: Sex-inked traits and autosomal trails have diferent of inheritance patterns in humans: autosomal recessive, Inheritance patterns autosomal dominant, sox linked recessive, and sex linked Complete the following monohybrid crosses for diferent types dominant inhertance. 1. Inheritance of autosomal recessive traits Example: Albinism Albinism (lack of pigment in hair, eyes and skin) is inherited as an autosomal recessive allele (not sex-linked), Using the codes: PP (normal) Pp (carrier) Pp (albino) (a) Enter the parent phenotypes and complete the Punnett square for a cross between Iwo carrier genotypes, {b) Give the ratios for the phenotypes from this cross. Phenotype ratios: 2. Inheritance of autosomal dominant traits Example: Woolly hair ‘Woolly hair is inherited as an autosomal dominant allele. Each affected individual will have at least one affected parent. Using the codes: WW (woolly hair) Ww (wooly hair, heterozygous) ww (normal hair) (a) Enter the parent phenotypes and complete the Punnett ‘square for a cross between two heterozygous individuals (b) Give the ratios for the phenotypes from this cross. Phenotype ratios; 3. Inheritance of sex linked recessive traits Example: Hemophilia Inheritance of hemophilia is sex linked. Males with the recessive (hemophilia) allele, ae alfected. Females can be carriers. Using the codes: XX (normal female) XX" (carrier female) XX" (hemophiliac female) XY (normal mate) XY (hemophiliac male) (a) Enter the parent phenotypes and complete the Punnett square {or a cross between 2 normal male and a carrier female (b) Give the ratios for the phenotypes from this cross. Phenotype ratios: 4, Inheritance of sex linked dominant traits Example: Sex linked form of rickets ‘A rare form of rickets is inherited on the X chromosome. Using the codes: XX {normal female}; XY (normal male) XX _ (affected heterazygote female) XRXR_ (affected female} XFY (affected male) (@) Enter the parent phenotypes and complete the Punnett square fora cross between an affected male and heterozygous female. (©) Give the ratios for the phenotypes from this cross. Phenotype ratios: —_ isan:o7e927173-95-0 Potacopyingehbted Mal parent phevaype: alo parent phonoyp: te Mate paronthenoype: Formal parent phenotype: OLD Female parent phenotype: 9 un APP