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4.1 GENETICS Study GUIDE Instructions: Read pages 81 to 84 in your IB Biology Text Book & define the below vocabulary words and address the below assessment statements. Genes and Chromosomes Define the following Vocabulary Words: Eukaryotic Chromosomes DNA Proteins Histones Gene Allele Genome Heritable Factor Gene locus Genome Gene mutation Transcription Translation Sickle-cell anemia Glutamic acid Valine Address the below Learning Objectives: 4.1.1 State that eukaryote chromosomes are made of DNA and proteins. 4.1.2 Define gene, allele and genome. Gene: a heritable factor that controls a specific characteristic. Allele: one specific form of a gene, differing from other alleles by one or a few bases only and occupying the same gene locus as other alleles of the gene. Genome: the whole of the genetic information of an organism. Define gene mutation. Explain the consequence of a base substitution mutation in relation to the processes of transcription and translation, using the example of sickle-cell anemia. GAG has mutated to GTG causing glutamic acid to be replaced by valine, and hence sickle-cell anemia. 4.1.3 4.1.4 Genetics TOPIC 4.2 STUDY GUIDE Instructions: Read pages 84 to 90 in your IB Biology Textbook, and then define the below vocabulary words and address the learning objectives/ assessment statements below. Meiosis Define the following Vocabulary Words: Meiosis Diploid Haploid Homologous chromosomes Non-sister chromatids Non-disjunction Prophase 1 Down syndrome Trisomy 21 Karyotyping Chronic villus Amniocentesis Address the below Learning Objectives: 4.2.1 State that meiosis is a reduction division of a diploid nucleus to form haploid nuclei 4.2.2 Define homologous chromosomes. 1 4.2.3 Outline the process of meiosis, including pairing of homologous chromosomes and crossing over, followed by two divisions, which results in four haploid cells. Limit crossing over to the exchange of genetic material between non-sister chromatids during prophase I. Names of the stages are required. 4.2.4 Explain that non-disjunction can lead to changes in chromosome number, illustrated by reference to Down syndrome (trisomy 21). 4.2.5 State that, in karyotyping, chromosomes are arranged in pairs according to their size and structure. 4.2.6 4.2.7 State that karyotyping is performed using cells collected by chorionic villus sampling or amniocentesis, for pre-natal diagnosis of chromosome abnormalities. Analyse a human karyotype to determine gender and whether nondisjunction has occurred. Karyotyping can be done by using enlarged photographs of chromosomes.