TOPIC 4 GENETICS

4.1.1: STATE THAT EUKARYOTIC CHROMOSOMES ARE MADE OF DNA AND PROTEINS.

In eukaryotic cells, chromosomes are located in the nucleus, and are made up of chromatin. Chromatin is composed of DNA and histone proteins. DNA coils around histone proteins to form nucleosomes. The nucleosomes interact with one another to form coils and supercoils that make up chromosomes.

4.1.2: DEFINE GENE, ALLELE, AND GENOME

Differing from other alleles by one or a few bases only and occupying the same gene locus as other alleles of the gene.

4.1.2: DEFINE GENE, ALLELE, AND GENOME

Genome: the whole of the genetic information of an organism.

4.1.3: DEFINE GENE MUTATION

A change in the sequence of bases in a gene. Base substitution: insertion of an incorrect nucleotide

4.1.4: EXPLAIN THE CONSEQUENCES OF A BASE SUBSTITUTION MUTATION IN RELATION TO THE PROCESS OF TRANSCRIPTION AND TRANSLATION.

Transcription: Copying a sequence of DNA bases to mRNA Translation: decoding of mRNA at a ribosome to produce a polypeptide.

4.1.4 SICKLE CELL ANEMIA

Blood disorder, RBC become sickle shaped and cannot carry oxygen properly. Due to a single base substitution mutation in one of the genes that make hemoglobin African ancestry

~1%

suffer from the condition 10-40% are carriers

4.1.4 SICKLE CELL ANEMIA

Valine has different properties from glutamic acid Hemoglobin molecule is a different shape

Less

soluble In low oxygen concentrations, it deforms the red blood cells

4.3 Theoretical Genetics

4.3.1 DEFINE

4.3.2 DETERMINE THE GENOTYPE & PHENOTYPE OF THE OFFSPRING OF A MONOHYBRID CROSS USING A PUNNETT GRID.

4.3.3 STATE THAT SOME GENES HAVE MORE THAN TWO ALLELES Sometimes there are three or more alleles for the same gene. Example: ABO blood type

IA =

the alleles for type A blood. IB = the alleles for type B blood. i = the recessive allele for type O.

4.3.4 DESCRIBE ABO BLOOD GROUPS AS AN EXAMPLE OF CODOMINANCE AND MULTIPLE ALLELES.

4.3.5 EXPLAIN HOW THE SEX CHROMOSOMES CONTROL GENRE BY REFERRING TO THE INHERITANCE OF X AND Y CHROMOSOMES IN HUMANS.

4.3.6: State the some genes are present on the X chromosome and absent from the shorter Y chromosome in humans. 4.3.9: State that a human female can be homozygous or heterozygous with resecpt to sex linked genes.

4.3.7 DEFINE SEX LINKAGE.

4.3.8: DESCRIBE THE INHERITANCE OF COLOUR BLINDNESS AND HAEMOPHILIA AS EXAMPLES OF SEX LINKAGE.

4.3.8: DESCRIBE THE INHERITANCE OF COLOUR BLINDNESS AND HAEMOPHILIA AS EXAMPLES OF SEX LINKAGE.

4.3.12: DEDUCE THE GENOTYPE AND PHENOTYPE OF INDIVIDUAL S IN PEDIGREE CHARTS.

4.2.5: STATE THAT, IN KARYOTYPING, CHROMOSOMES ARE ARRANGED IN PAIRS ACCORDING TO THEIR SIZE AND STRUCTURE.

Karyotype: photograph of the chromosomes found in a cell arranged according to a standard format

Size and shape

Shape depends on the position of the centromere.

HOW IS A KARYOTYPE MADE?

1. Cells are strained and prepared on a glass slide. 2. Photomicrograph images are obtained of the chromosomes during mitotic metaphase. 3. Images are cut out and separate, done by hand or computer. 4. Images of each pair of chromosomes are placed in order by size and the position of the centromere.

4.2.6: STATE THAT KARYOTYPING IS PERFORMED USING CELLS COLLECTED BY CHORIONIC VILLUS SAMPLING OR AMNIOCENTESIS, FOR PRE-NATAL DIAGNOSIS OF CHROMOSOME ABNORMALITIES.

Amniocentesis: taking amniotic samples 14-16 weeks

Chorionic villus: taking a sample of cells from chorionic villus (fine projections of the placenta embedded in the lining of the uterus) 8-10 weeks

4.2.4 EXPLAIN THAT NON-DISJUNCTION CAN LEAD TO CHANGES IN CHROMOSOME NUMBER, ILLUSTRATED BY REFERENCE TO DOWNS SYNDROME (TRISOMY 21) 4.2.7 ANALYSE A HUMAN KARYOTYPE TO DETERMINE GENDER AND WHETHER NON-DISJUNCTION HAS OCCURRED.

Non-disjunction: process by which two or more homologous chromosomes stick together. Can occur during the 1st or 2nd meiotic division. Trisomy 21: non-disjunction of the 21st chromosome, leads to Downs Syndrome

Most common chromosomal anomaly 1 birth in 800, rick increases after age 35