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4.3.5 Sex Chromosomes and Sex Linkage Questions Each person normally has one pair of sex chromosomes in each cell. Females have two X chromosomes, while males have one X and one Y chromosome. The X chromosome contains about 1000 genes, including the genes for haemophilia and colour blindness. For this reason these genes are said to be sex-linked. a. Write a definition of “sex-linkage”. …………………………………………………………………………………………………………………………. b. Name two examples of sex-linked genetic disorders. (hint – read the introduction again) ………………………………………………………. ………………………………………………………. c. Explain why human females can be homozygous or heterozygous for sex-linked genes, and why males cannot. ………………………………………………………………………………………………………………………….. ………………………………………………………………………………………………………………………….. ………………………………………………………………………………………………………………………….. What is the best notation to use for these alleles of genes found on the X-chromosome? We need to show the X chromosome or the y chromosome in the notation. The allele must also be shown and this can be recessive or dominant. N n For these reasons alleles are usually written as or X or y – (the represents the absence of an allele on the y chromosome) X d. The allele for colour blindness (n) is recessive to the allele for normal vision (N). This gene is carried on the X chromosome. For this reason the notation of these alleles is Xn and XN. Complete the table below to show the genotypes and phenotypes of individuals with regard to colour blindness. Female Normal Male XNXN Affected Carrier Not possible! Why? © David Faure, InThinking www.biology-inthinking.co.uk adapted from a worksheet by John McMurtry 1 4.3.5 Sex Chromosomes and Sex Linkage Questions e. In the space below, complete a punnet grid to show a cross between a normal male and a carrier female. What is the expected ratio of F1 phenotypes? 1. Haemophilia is a blood-clotting disorder that is also recessive and sex-linked. The alleles are usually written as XH = normal clotting allele and Xh = haemophilia allele a. State the normal function of the gene associated with haemophilia. …………………………………………………………………………………………………………………………. b. Describe the effects and symptoms of haemophilia. ………………………………………………………………………………………………………………………….. ………………………………………………………………………………………………………………………….. ………………………………………………………………………………………………………………………….. c. Use the pedigree chart to deduce the possible genotype(s) of the named individuals. Leopold Helen Alice Mary Rubert Bob Britney © David Faure, InThinking www.biology-inthinking.co.uk adapted from a worksheet by John McMurtry 2