o e.g.

babies born with mandibular central incisors 

AGENTS OF DISEASES/GENETICS o Extracted so the baby can breastfeed 
Definition of Terms:
Gene
 the basic physical and functional unit of heredity 
o Passed on from parent to child 
o Makes up out DNA 
o genes of mother to father 
o game of lottery because you may luck out on your
genes (physically, mentally) 
o Looks from father 
o Intellect from mother 
Genotype Chromosome
 the specific set of genes carried by an individual   the nuclear structure composed of DNA which contains
o What the individual has  hereditary units, the genes. 
o Combination of genes from parents  o Genes are contained in chromosome 
Autosome
Phenotype
 the clinical appearance of a patient or overt manifestation of
 any chromosome other than the sex chromosome. Man has
22 pairs of autosome 
this defect which can be seen, felt, or measured by
Gamete
laboratory tests 
o Physical appearance of an individual   a mature germ cell (sperm or ovum) with a haploid
chromosome number 
o Measurable, seen or felt  Haploid
o Whatever genes that are seen/ clinically  the chromosome number of a normal gamete which contains
measurable   only one member of each homologous chromosome pair 
Polygenic traits Zygote
 traits produced by many genes at different loci each with  the fertilized diploid ovum formed by the union of the haploid
small, additive effect. Also known as MULTIFACTORIAL OR egg with the haploid sperm 
QUANTITATIVE TRAITS 
o Combination of all the traits that is manifested by a
o Haploid- half of chromosome of father and mother
gene  when they fertilize 
Locus Penetrance
 the specific site on a chromosome occupied by a particular  the frequency of phenotypic expression of a specific gene in
gene  a group of individuals known to carry that gene 
o Loci - position of a gene/mutation on a o Number by which a specific gene gets expressed
chromosome  in a specific group
Alleles o e,g, you are 4 in the family, penetrance is number
by which a gene is expressed in your symbols
 genes which occupy homologous loci on homologous
chromosomes  o 2 out of 4 symbols are tall 
Dominant gene Expressivity
 one which expresses its phenotype when it is present in the  the degree of severity of the effect of a gene in individuals
homozygous or single gene dose form  with the same genotype 
o What is seen clinically   o How obvious/overt a specific genetic characteristic
o What is expressed by an individual  is shown
Recessive gene o e.g. you are tall but how tall are you compared to
your parents 
 one which expresses its phenotype when it is present in the
homozygous or double gene dose form 
o Curly hair gene, how curly in your hair compared
to your parents 
o e.g. tall mother and short mother 
o Your height is short, your dominant gene is short,
you recessive gene is the tall gene
o You possess but is not seen clinically  
o May manifest in children 
Heterozygote
 an individual whose two alleles at a given locus
are different 
Homozygote
 an individual whose two alleles at a given locus are
Carrier
identical 
X-Iinked   a normal-appearing individual who carries a single recessive
gene together with its normal allele 
 genes on the X chromosomes 
o Recessive gene is not seen clinically 
 traits determined by such genes are called x-linked or sex- Malformations 
linked  o occur primarily from agents injuring the inside of the cell 
Familial
 occurring in different members or a family; may or may not  caused by radiation, ingestion of mercury (from food
such as salmon and tuna) 
be of genetic etiology 
o Traits that appear in the family (common)  o include both hereditary and developmental disturbances 
o Sisters congenitally missing lateral incisors   Hereditary - from parents if they have the gene causing
Congenital malformation 
Developmental
 present at birth, but not necessarily genetic 
  if the parent is exposed or the mother has ingested  Characteristics: 
something  o The trait appears only in brothers/sisters, not in
o may include inborn errors resulting to metabolic their parents, offspring or other relatives. 
disorders such as the inability of a cell to utilize a  Parents may carry but does not
specific enzyme properly  manifest  
  o On average, 1/4 of the brothers/sisters of the
AGENTS OF DISEASES:
family who is noted to have the trait in question are
1. Endogenous or Intrinsic Factors or Genetic 
affected. 
o refers to the injuries occurring within the cell 
o The parents of the affected child may be
o primarily genetic and constitute hereditary disease  consanguineous (common ancestor) 
 During pregnancy there are spontaneous o Males and females are equally affected
changes/inborn disease that take place in the cell but
they are not passed on from generation to generation 
 May manifest congenitally 

Monogenic Inheritance
Autosomal Dominant Inheritance
 a hereditary trait which is governed by a single dominant
allele 
 A single gene/allele could cause disease 
 ex. Dentinogenesis imperfecta 

Teeth are translucent and discolored, it is

weaker than normal, the teeth breaks off easily.
Patient may suffer from tooth loss. Affect
primary and permanent 

 Characteristics: 
o Every affected person has at least one affected X-Iinked Recessive Inheritance (x chromosomes)
parent.   Examples: color blindness & hemophilia 
o Males and females are equally likely to be affected Characteristics: 
and should be capable of transmitting the trait, o Incidence of trait is much higher in males than in females 
provided the affected gene does not cause o The trait is transmitted by affected men to all of their
sterility.  daughters who become carriers 
o Usually there is no skipping of generations, and o The trait cannot be transmitted from father to son. 
father to son and mother to daughter transmission
should be as frequent as father to daughter and o The trait may be transmitted through a series of carrier
mother to son.  females, and if so the affected males in a family are related
 Gene is visible in all generations  to one another through these carrier females. 
o Affected persons typically transmit the trait to half o Genes which are recessive in females behave as dominant
their offspring.  genes in males since they are always expressed 
 50% of offspring will show the gene   This gene when passed to men becomes domninant 
o Affected males cannot transmit an X-Iinked gene to their
sons since son receives the Y Chromosome from the father 
o Affected females transmit the gene to half their sons who
then express the trait 
 Mothers are x-carriers 
o Affected females transmit the gene to half their daughters
who will then be carriers like their mothers 
X-Iinked Dominant Inheritance
 females have twice as many X-chromosomes as males 
 An affected female, if heterozygous, will transmit the gene to 1/2
of her offspring regardless of their sex 
 An affected male cannot transmit the trait to his sons, but all his
daughters receive his X-chromosome containing the affected
gene and hence will be affected 

Autosomal Recessive Inheritance

 A trait transmitted as an autosomal recessive is expressed only in
a person who receives the recessive gene in question from each
parent; therefore making him homozygous.
 o Be careful with drugs taken (caution when
pregnant)
o Temperature
o Extreme Temperature may cause harm
o Radiation
o Radiation during pregnancy causes adverse
effect to the child.
o Parasites
o Nutrition
o Emotion
o Oncogenes
o Any gene that is a causative factor in the
initiation of cancerous growth.

Y-linked (Holandric) Inheritance

 Holandric-heritable trait appearing only in males 
 Every son of the affected father is affected and no daughter
would ever be affected or transmit the trait 
 Function: 
o Y-chromosome- genes that determine the
maleness of the individual 

Polygenic ( Multifactorial) Inheritance

 more than one gene is a possible cause  
 Premise:  
o Each gene has its own effect and the sum total of all these
multiple effect produces the phenotype 
o Each gene will have an effect to some extent 
 Most important feature: 
o polygenic traits are very susceptible to environmental
modification 
 Example is Dental caries 
o Interaction product of: 
 Cariogenic diet 
 Bacterial flora 
 Susceptible tooth 
o Absence of one factor will cause no formation of
caries 
o environmental modification such as systemic fluoride
supplementation produces a considerable alteration in the
phenotype without changing the basic genetic constitution of
the individual 
o Good oral hygiene is key against caries. 

CHROMOSOMAL ABERRATIONS
Alteration in size, shape and fine structures
a. Presence of extra chromosomes 
 Eg. Mongolism (Down's Syndrome) 
 With 47 chromosomes 
b. Missing chromosome: monosomy 
 Eg. Turner's syndrome 
 Short stature, secondary sex characteristics missing 

Alteration of structures
a. Deletion-a piece of chromosome is absent 
b. Duplication- the insertion of an extra chromosome fragment into
a chromosome from its homolog 
c. Inversion- the breaking of a chromosome in two places and
subsequent rejoining with the middle piece inverted 
d. Translocation- the attachment of a broken piece from one
chromosome to another, but non homologous chromosome 

2. Exogenous/ External Factors

 factors originating outside the cell 
 agents which commonly produces disease
o Trauma
o During pregnancy, it is possible.
o Drugs
o May cause disease