BIMM 110Molecular Basis of Human Disease Lecture Notes latest UPDATE

BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE

BIMM 110Molecular Basis of HumanDisease Lecture Notes latest




BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE

, BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE



1

BIMM 110. Molecular Basis of Human Disease Lecture Notes



Lecture 1: Diseases, Genes, and Chromosomes

A. Human and Human Diseases

• Purpose of Human Life: prolong life, cure diseases, and reduce suffering.

• Disease: abnormal condition that impairs bodily functions,

associated with specific symptoms and signs.

o Human disease can be caused by pathogens toxic

substances, malnutrition, and internal dysfunctions.

• Human diseases can be genetically or non-genetically related.

B. Human Genetic Disease

• Diseases mainly due to abnormalities of the genome.

• Familial Diseases: types of illness are run in families. The

same disease is noticed in different generations of the same



BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE

, BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE

genetically associated family members without a clear

environmental factor.

• Sporadic Diseases: types of illness appear in scattered or

isolated instances without any genetic association to other

family members.

C. Genetics

• Phenotype: appearance of a feature (trait) of an individual

• Gene: unit of heredity, segment of DNA that provides the coded

instructions for synthesis of RNA -> regulate cell functions or

towards translation for proteins

• Genotype: two different allele of the same gene particular gene

of interest in diploid cells as a combination of alleles

(heterozygous or homozygous)

F. Phenotype: Wet or Dry Ear Wax

• Gene: ABCC11 (ATP-Binding Cassette Subfamily C)

o One amino acid changed gives a genotype wet or dry.



BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE

, BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE

o Genotype: Guanosine, Phenotype: wet

o Genotype: Adenosine, Phenotype: dry

G. Contributions in Environment Affect the Phenotype

• Ex) Flamingo Red Vs. White

o Pinkness of flamingos is not encoded into their genotype

o Food Consumed -> phenotype white or pink

o Human Perspective: skin color through sun exposure.

H. Chromosome Organization (24 Human Chromosomes)

• Longest Autosomal Chromosome: Chromosome 1

• Shorted Autosomal Chromosome: Chromosome 22

o 22 pairs autosomes and 2 pairs of sex chromosomes (XY & XX)

• Normal Cell: 23 pairs of chromosomes

I. Karyotype

• Complete set of chromosomes of a cell, including the

number and appearance of chromosomes

o During karyotyping analysis, the chromosomes are




BIMM 110Molecular Basis of Human
Disease Lecture Notes latest UPDATE