5.

1 Understanding Inheritance
Gregor Mendels Experiments -Mendel (1822-1884) -was able to sort out the mystery of inheritance by breeding pea plants -he chose to experiment with pea plants because they were available in many varieties and show many different traits -a trait is a specific characteristic or feature exhibited by an organism (eg. flower colour) -laws that Mendel developed formed the modern theory of inheritance Pea Plants -Mendel would start off with true-breeding plants -true-breeding means that organisms exhibit the same traits generation after generation (pure breed) -he would selectively fertilize a female gamete with a male gamete -this process was called a crossthe fertilization of a female gamete of a specific genetic origin with a male gamete of a specific genetic origin -also referred to as cross-polination The Results of True-Breeding -Mendel chose to observe seven traits that were expressed in two distinguishable forms -stem length (tall/short), pod shape (inflated/pinched), seed colour (yellow/green), seed shape (round/wrinkled), flower position (axial/top), flower colour (purple/white) and pod colour (yellow/green) -the true-breeding plants were called the P (parental) generation; the original organisms being crossed -the offspring of the cross between the parents were called the F1 generation -this cross was called a monohybrid cross (a cross of individuals that differ by one trait)only one trait was being monitored -he decided to cross green-seed plants with yellow-seed plants -resulted in only yellow-seed plants in the F1 generation -after crossing the true-breeding plants, Mendel concluded that the off-spring will only exhibit one of the two traits being crossed Results of the F1 Crosses -offspring of the F1 crosses were called the F2 generation -he allowed the plants from the F1 to self-fertilize, then grew the seeds for the F2 generation -he discovered that the trait that had disappeared in the F1 generation reappeared in the F2 -the green trait reappeared in the F2 generation -the ratio of green to yellow seeds was 1:3 -this ratio was known as the Mendelian ratio Law of Segregation -he concluded that there are two hereditary alleles for each trait -alleles are different forms of a gene -although the offspring would inherit both alleles, only one of the traits would be evident -this was called the dominant allele, the form of a trait that always appears when an individual has the allele for it -in this case, yellow-seeds were dominant -green-seeds were considered to be recessive; the form of a trait that only appears when an individual has two alleles for it -Mendel proposed the law of segregationtraits are determined by pairs of alleles that segregate during meiosis so that each gamete receives one allele -upon fertilization, each offspring contains one allele from each parent -if the dominant allele for a trait is present, only the dominant form of the trait will be expressed -for a recessive trait to be expressed, the individual must have two recessive alleles for that trait Genotypes and Phenotypes -alleles are representing by upper-case and lower-case letters -dominant: upper-case -recessive: lower-case -the combination of alleles is called the genotype (genes) -the expression of a genotype is called the phenotype (physical) -if an individual has two dominant alleleshomozygous dominant

-two recessive alleleshomozygous recessive -if an individual has two different alleles of a gene, they are heterozygous

5.2 Studying Genetic Crosses

-a punnett square is a grid used to illustrate all possible genotypes and phenotypes of offspring from genetic crosses -uses Mendels law of segregation to illustrate all the possible offspring that could be formed from the gametes of the parents -provides a visual representation of the probability of inheriting a certain genotype and phenotype Test Crosses -a test cross is a cross between a parent of an unknown genotype and a homozygous recessive parent -used to determine if an individual is heterozygous or homozygous for a dominant phenotype -in a test cross, if any offspring shows the recessive phenotype, the unknown genotype of the parent must be heterozygous Dihybrid Crosses -a dihybrid cross is a cross of two individuals that differ in two traits due to two different genes -Mendel set out to test if the inheritance of one trait would have an impact on the inheritance of another trait -he crossed yellow, rounded seeds (YYRR) with green, wrinkled seeds (yyrr) -found that only the dominant forms of each trait were shown in the F1 generation -again, in the F2 generation, the recessive traits reappeared Law of Independent Assortment -he discovered that the ratio for dihybrid crosses was always 9:3:3:1 -nine displaying the dominant form of both traits (Y_R_) -three displaying one dominant and one recessive form (Y_rr) -three displaying the opposite combination of dominant and recessive forms of the two traits (yyR_) -one offspring displaying both recessive traits (yyrr) -the law of independent assortment states that the alleles for one gene segregate or assort independently of the alleles for other genes -meaning that the inheritance of one trait does not affect the inheritance of another trait The Chromosome Theory of Inheritance -Walter Sutton (1877-1916) proposed a theory based on his studies on synapsis and the migration of sister chromatids -the chromosome theory of inheritance states that genes are located on chromosomes, and that chromosomes provide the basis for segregation and independent assortment of alleles -Sutton realized that the distribution of chromosomes into developing gametes follows the pattern for two alleles of a gene -during gamete formation, alleles segregate just as homologous chromosomes do

5.3 Following Patterns of Inheritance in Humans

-a pedigree is a type of flowchart that uses symbols to show the inheritance patterns of traits in a family over many generations -help uncover the probability of a particular genotype or phenotype in an offspring -often used to determine the presence or absence of an allele that is responsible for a disease in an individual Autosomal Inheritance -autosomes are any chromosomes aside from the sex chromosomes -autosomal inheritance refers to the inheritance of traits whose genes are found on the autosomeschromosome 1-22 -autosomal genes are also responsible for many inherited genetic disorders -can be classified in two ways: autosomal dominantwhen the disease-causing allele is dominant and the individual has one or both copies autosomal recessivewhen the disease-causing allele is recessive and the individual has both copies -by studying a pedigree, you can determine whether the inheritance patter of a disorder is autosomal dominant or recessive Refer to page 220 for a table of autosomal genetic conditions.

Genetic Tests Method Karyotype FISH (fluorescence in situ hybridization)

Gene Testing

What is Analyzed -chromosome structure and number -details of chromosome abnormalities; based on visualizing, through fluorescence, a targeted region on a chromosome -mutation(s) in the DNA sequence of a gene

Example -Down Syndrome: extra copy of chromosome 21 -chronic myelogenous leukemia (CML): part of chromosome 9 has broken off and attached to chromosome 22 -breast cancer susceptibility gene 1 and 2 (BRCA1 and BRCA2): a womans chance of developing breast/ovarian cancer is greatly increased if she inherits one of the mutated forms of the gene -tay-sachs disease: majority of cases are due to a lack of activity of the hexosaminidasea protein

Biochemical Testing

-abnormal enzymes and other proteins (due to mutation of gene that codes for protein)

Gene Therapy -gene therapy is a technique aimed at treating genetic disorders by introducing the correct form of the defective gene into a patients genome -still in the experimental stage -a copy of the normal gene is inserted into a vector, which acts as a carrier of the gene -the vector is usually the DNA of a virus, since viruses can easily infect human cells -once the normal gene is delivered to the cell, the correct protein is produced -two significant obstacles face gene therapy; the type of vector that is used and the poor integration of the gene into chromosomes -the virus can cause a response from the immune system, thus destroying the virus -although the new genes do get transferred, they are not successfully integrated into the chromosomesmeaning the normal gene does not get reproduced along with the rest of the cells genes during cell division