HUMAN GENETICS AND CYTOGENETICS

OBJECTIVES:

1. Explain how DNA is maintained and how it provides the information to construct a motion
2. Explain how gene expression underlies composition of the human body
3. Describe the mode of inheritance of Mendelian, Non-Mendelian, Multifactorial and
Mitochondrial Traits
4. List and differentiate the different kinds of human chromosomes
5. Compare the severities of monosomies and trisomies and of sex chromosome and autosomal
aneuploids
6. Discuss how understanding population substructure can aid in health care

PROFILE

Cherie Mae D. Pablo

Email: [email protected]

INTRODUCTION

WHAT IS GENETICS?

From Greek words:

“Genetikos” = genitive/generative

“Genesis” = origin

“Genea” = genes

= race or generation

Gen = to produce, to become, or to grow into something

 It is the study of genes and how they are transmitted from parent to offspring (Hereditary)
 Explains ones origin or ancestry
 How one becomes what he is like?
 Variations:
o Individuals of the same species may have characteristics common to all of them (Species
characteristics = denote common origin), and yet they may differ from one another
(individual characteristics)

Variations

 The basic quality of living organisms

 Similarities (Species Characteristics)
  Differences (Individual Characteristics)
 Provides the raw materials for adaptation
 PHENOTYPE – various observable features by which we recognize the organism
 GENOTYPE – type of genes or hereditary material in the organism
 PHENOCOPIES – environmental alterations of phenotype
o Ex. Straightening of curly hair

TYPES OF VARIATIONS

MORPHOLOGICAL OR STRUCTURAL

1. MORPHOLOGICAL or STRUCTURAL
Ex:
 Shape of face, ears, eyes
 Color of eyes and hair
2. CELLULAR, SUBCELLULAR, and MOLECULAR TRAITS
Ex:
 Kind of hemoglobin in the RBC
 Kind of glycoproteins on the cell membrane
 Kind of DNA
3. PHYSIOLOGICAL or FUNCTIONAL
 Biochemical and biophysical processes

Ex:

 Inability to absorb glucose

 Inability to distinguish colors
 Failure to perform photosynthesis
 Inability to synthesize certain amino acids
4. BEHAVIORAL
 The combined structural and physiological traits
 Patterns of reactions to its environment

Ex:

 IQ
 Mental retardation
 Tolerance level

5. SEXUAL
 The most important phenotypic characteristics of an organism
 Capacity for reproduction together with the features associated with it
TYPES OF SEXUAL VARIATIONS

 Primary Sexual Traits – differences in external genitalia and gonads

 Secondary Sexual Traits – non-sexual but related to mating and rearing of young’s
o Developed breast in human female
o Smaller body of male frogs
6. CONTINUOUS VARIATION
 When the characteristic varies in small amounts between individuals
o Height
o Weight
7. DISCOUNTINUOUS VARIATION
 When there are no one in-between

Ex:

o Tongue rolling
o Sex

Variations in Man

 Color
 Face shape

CAUSES OF VARIATION

1. Genes (Inherited)
 Sex determination
 Mental retardation
 Infant deformities
2. Environment (Acquired)
 Physical deformities
 Obesity

Levels of Genetics

1. DNA
2. Gene
3. Chromosome
4. Human genome (23 chromosome
pairs)
5. Individual
 Genotype refers to the
alleles present
  Phenotype is the visible trait
 Dominant allele is expressed if the individual carries just one copy
 Recessive allele must be present on both chromosomes of a pair to be expressed
6. The Family
 Individuals are genetically connected into families
 Charts called pedigrees depict the members of a family
o Indicate which individuals have particular inherited traits
7. A Population
 Is a group of individuals that can have healthy offspring together
 The gene pool is the sum of all alleles in a population
 Evolution is the changing allelic frequencies in a population over time

FIELDS OF GENETICS

1. TRANSMISSION GENETICS/ CLASSICAL GENETICS – deals with hereditary and variation

Methods:

 Planned Experiment/Cross Breeding

 Pedigree Analysis

Method: Planned Experimental Breeding

Mendel’s Experiments

 Garden pea (Pisum sativum) is ideal for genetic study

 Chose true-breeding/pure breeding which is between
homozygous garden peas for his experiments
 Mendel first worked with single-character crosses
(Monohybrid cross)
 The picture shows the technique of Mendel
 Discuss the technique step by step
 Why did Mendel use garden peas for the experiments?
RESULTS

 First filial generation offspring (F1)

Pea Characters (Mendel)

Method: Pedigree Analysis (Pedigree Symbols)

Sample Pedigree

Fields of Cytogenesis

2. CYTOGENESIS
 Study the genes in cell particularly in the chromosome
 Provide the chromosomal basis of sex determination
 Explain the distribution of boys and girls in the family
Karyotyping – Karyogram

Fields of Genetics

3. MOLECULAR GENETICS
 Investigate in detail the nature of genetic material, its structure, mode of replication and
how it acts to produce the phenotype
 DNA – genetic material

Molecular Genetics

In a paternity test, DNA samples from two possible fathers and from the mother are compared with the
offspring’s DNA. In this procedure, the samples are digested with a type of enzyme that cuts DNA at
specific sequences.
The digested DNA is loaded onto a gel and separated according to size, by gel electrophoresis

Every band of the offspring’s DNA must match a band in at least one if its parents’. Let’s first consider
matches with the mother. Three bands match the mother

The three remaining bands must be shared with the father. Only one of the possible even fathers shares
the three bands with the offspring. Therefore, this must be the Let biological father.

Fields of Genetics

4. POPULATION GENETICS
 Genetic structure of a population
 Patterns of genetic variation in populations
 Changes in genetic structure through time

Describing Genetic Structure

 Genotype frequencies
 Alleles frequencies

Genotype frequencies:

200/1000 = 0.2 rr

500/1000 = 0.5 Rr

300/1000 = 0.3 RR
POPULATION GENETICS

How much do human populations differ?

Fields of Genetics

5. APPLIED GENETICS
 Practical applications of Genetics
A. Animal husbandry & plant breeding – to produce high yielding varieties of food crops
like disease-resistant plants and varieties of cows and pigs
B. Epidemiological Genetics – for better therapy, management and prevention of
reoccurrence of inherited disease
C. Eugenics – choice of partners for marriage and have an estimate of the likelihood of
appearance of desirable trait
D. Medicolegal Genetics – to solve legal problems like dispute in paternity and exchange of
babies in hospital nursery
E. Genetic Counseling – for deciding abortion and planning responsible parenthood
amniocentesis
F. Genetic Engineering
 Pair of defective genes
 The process of manually adding new DNA to an organism
 Ex. GMO (transgenic) organisms
o Plants with resistance to some insects
o Plants that can tolerate herbicides
o Crops with modified oil content
G. Recombinant DNA technique and Gene Cloning
 DNA fragments are cut out of their normal position the chromosome using
restriction enzymes and then inserted into other chromosomes or DNA
molecules using enzymes
Human Genome Project Information