Assessment task: Extended response (40 marks) This task is in two parts. Part A requires you to consider gene frequencies in two populations. Part B involves researching a genetic condition and answering questions relating to it. Part A: Gene frequencies (30 marks) The ABO blood typing system is governed by genes IA and IB, which are codominant to the (i) gene. The genotypes that exist are: IA IA or IA i – type A IB IB or IBi – type B IA IB – type AB ii – type O The diagram below shows an original population – a hypothetical population of Aboriginals and their blood group genotypes as they may have existed before they migrated to the Australian continent. A number of individuals from this original group migrate to Australia, resulting in an island population. © WestOne Services 2009 SCIENCE1218 1 1. Record the following in the tables provided: (22 marks: 0.5 for each) a) Count the number of alleles in both populations. b) Count the number of allele combinations in both populations. c) Calculate the allele frequencies as percentages for both. Mainland population Number counted % IA Allele types IB i Allele combinations I AI A I Ai I BI B I Bi I AI B ii © WestOne Services 2009 SCIENCE1218 2 Mainland phenotype frequencies Type A Type B Type AB Island population Number counted Type O % IA Allele types IB i Allele combinations I AI A I Ai I BI B I Bi I AI B ii Island phenotype frequencies Type A Type B Type AB Type O Use the following formula to calculate a gene (allele) frequency: Gene (allele) frequency = number of specific alleles ÷ total number of alleles x 100 © WestOne Services 2009 SCIENCE1218 3 2. Answer the following questions. (8 marks) a) Describe how the allele frequencies of the two populations differ. (2 marks) b) Predict what will happen to the allele frequencies for both populations after many generations. (2 marks) c) This type of colonisation of the island can be identified by which term? d) What other process could further alter the allele frequencies of the island population? Why? (2 marks) e) From the information given, name an evolutionary process that doesn’t appear to be influencing the allele frequencies of both populations. (1 mark) © WestOne Services 2009 SCIENCE1218 (1 mark) 4 Part B: Genetic diseases (10 marks) The incidence of genetic diseases in populations can be related to some of the evolutionary mechanisms discussed in this topic. Choose one such disease from the list and then complete the questions. List Tay-Sachs disease Down syndrome haemophilia cystic fibrosis Klinefelter syndrome 1. In one paragraph describe the condition’s symptoms and any available treatment or management strategy. 2. Try to find out where the condition originated from. 3. Why do you think the condition still persists in the population? © WestOne Services 2009 SCIENCE1218 5