CHAPTER 017: 4.

Heredity describes how some traits are passed 
from parents to their children. The traits are expressed by ge
GENETICS AND HERIDITARY nes, which are  small sections of DNA that are coded for 
specific traits. Genes are found on chromosomes. 
The Vocabulary of Genetics Humans have two sets of 23 chromosomes—
one set from each parent. 
From the moment the egg or zygote is fertilised, it starts to
divide, giving rise to new cells, which group together in an orderly 5. Gregor Mendel first proposed the basic principles of
fashion to form new organs in our body with specialised functions.
Different sets of organs make up an interrelated “ecosystem” so perfect
heredity in the mid-1800s.Mendel studied characteristics that
and incredibly wonderful that it makes it possible for us to live, develop, vary in an either-or fashion,which is easier to understand
and adapt to our environments. So it is then easy for us to figure out that than the more-orless fashion in which many human traits
such orderly fashion must be scrupulously directed and controlled. And vary.
this is exactly the case, as all the instructions necessary for the
development of the egg are contained in structures known as 6. The nuclei of all human cells except gametes contain the
chromosomes that we all have inside our cells.
diploid number of chromosomes (46),consisting of 23 pairs
1. Chromosomes are vase-like structures where all the of homologous chromosomes. Homologous chromosomes
genetic data or necessary instructions are contained for a are pairs of chromosomes—one from the father (sperm) and
given individual to develop. In one word, chromosomes one from the mother (egg)—that look similar and carry
contain our building blocks, that is to say our genetic genes for the same traits, but do not necessarily bring about
heritage. the same expressions of those traits.

We receive this genetic inheritance in two equal parts from our a. Two of the 46 chromosomes are sex chromosomes(X and
parents at the time of conception. In turn, and by the same method, it is Y),which determine genetic sex (male XY; female XX).
transmitted to our offspring, and from our offspring, transmitted to their b. The other 44 are the 22 pairs of autosomes that guide the
offspring, and so traits are derived from an earlier generation to another expression of most other traits.
generation. Thus, chromosomes are responsible for the origin and c. The complete human karyotype or diploid chromosomal
continuity of life. complement displayed in homologous pairs, as shown in
the picture.
2. How can our organs be so different if all body cells
d. The diploid genome,or genetic (DNA) makeup,represents
contain exactly the same instructions? The answer is easy.
two sets of genetic instructions—one from the egg and the
They are able to do this through cell specialization. other from the sperm.
In general terms, a cell is very much like an egg, and consisting
of three major parts: a nucleus, a cytoplasm, and a cytoplasmatic
membrane that encircles it. For the time being, let’s just focus on the
nucleus, as it is in its inner portion where chromosomes are found and
which, in the human, total 46.

Given that all cells in our body have developed from one single
cell, “the egg or ovum fertilised by one spermatozoon”, all cells are
identical, that is, they contain exactly the same instructions. However,
depending on the organ they are to be part of, they will use a specific part
of that information. This process is known as cell specialization.

In this way, nerve cells contain the necessary information to

form hair and the cells that make up hair have the necessary information
to form nerves. However, once specialised, nerve cells will form nerve
tissue and hair cells will form hair. And so, since different “recipes” are
used, cells will form different organs.
7. Because chromosomes are paired, it follows that the genes
3. Genetics is the study of heredity, the process in which a in them are paired as well. Consequently, each of us receives
parent passes certain genes onto their children. two genes,one from each parent (for the most part),that
Children inherit their biological parents’ genes that express interact to dictate each trait. Matched genes, which are at the
specific traits, such as some physical characteristics, natural same locus (location) on homologous chromosomes, are
talents, and genetic disorders.
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called alleles of each other. Alleles may code for the same or rise to two more cells, and this is successively repeated until
for alternative forms of a given trait.For example,of the the individual is formed.
alleles that dictate whether or not you have loose thumb
ligaments, one allele might code for tight ligaments and the 2. Given that nature is very wise, depending on whether it
other for loose ligaments (the double-jointed thumb wants to keep the number of chromosomes constant or,
condition). alternatively, reduce it by one half, it has, at its convenience,
two types of cell divisions, which it uses in a very specific
Each person has 2 copies of every gene—one copy from  and controlled manner. One is mitosis and the other is
mom and a second copy from dad.  These copies may  meiosis.
come in different variations, known as alleles, that 
express different traits.    
3. In the Mitosis cell division, the two resulting daughter
For example, 2 alleles in the gene for freckles are  cells always contain the same number of chromosomes as
inherited from mom and dad:  the parent cell from which they derive. Mitosis is the type of
cell division used by the cells in our body, with the
allele from mom = has freckles (F)  – allele from dad = no freckles (f) 
– child  has the inherited gene pair of alleles, Ff  exception of cells located in the ovary and the testicles. Their
(F allele from mom and f allele from dad).  role is to maintain the number of chromosomes in each cell
division constant, enabling us to grow and self-maintain our
a. When the two alleles controlling a trait are the same, a bodies.
person is said to be homozygous for that trait.
b. When the two alleles are different, the individual is See Chapter 003.1 – Cell Life Cycle
heterozygous for the trait.
c. Sometimes,one allele masks or suppresses the expression 4. The Meiosis cell division, the number of chromosomes is
of its partner.Such an allele is said to be not kept constant, to the contrary, “it is reduced by one half”.
dominant,whereas the allele that is masked is said to be This is a reductional type of cell division, and so, at the end
recessive.By convention,a dominant allele is represented of the entire process, each resulting daughter cell contains
by a capital letter (for example J and a recessive allele only half the number of chromosomes from the parent cell.
by the lowercase form of the same letter (j).
That is, from cells that contained 46 chromosomes grouped
d. Dominant alleles are expressed, or make themselves
in 23 sets, cells that contain 23 chromosomes are derived,
“known,” when they are present in either single or double
only taking one component from each set.
dose.
e. For recessive alleles to be expressed,they must be present
5. Meiosis is the type of cell division used solely by the cells
in double dose, that is,the homozygous condition.
that make up the ovary and testicle. Their role is to reduce
Returning to our thumb example,a person whose genetic the number of chromosomes to half so that at the time of
makeup includes either the gene pair JJ (the homozygous dominant fertilization: 23 chromosomes from the mother + 23
condition) or the gene pair Jj (the heterozygous condition) will have chromosomes from the father come together to form he 46
double-jointed thumbs. The combination jj (the homozygous recessive
condition) is needed to produce tight thumb ligaments.
chromosomes that make up the individual.

Meiosis 5. Through meiosis, we obtain gametes that the cells in our

body use to fertilise and reproduce ourselves. In females,
Given that the number of chromosomes for everything to run these cells are called ovocytes (ova) and in males they are
smoothly should always be kept constant from generation to generation, called spermatozoa.
each individual should only inherit 23 chromosomes from each progenitor
at the time of conception. Thus, if a woman has 46 chromosomes and a 6. The original cell that contains the 46 chromosomes
man has 46 chromosomes, each one has to transmit to their unborn child
half of that amount (23 chromosomes) at the time of fertilisation. And so
divides and splits into two new cells. Before they are
the unborn child will receive 46 chromosomes, 23 from its female parent separated, these two cells share the chromosomes in equal
and 23 from its male parent = 46 in total. numbers and each of them takes one element from each set
of chromosomes. Because they share the chromosomes
1. Every cell always results from the partition of one cell between them, each of these two cells only contains 23
into two daughter cells. And so, from the moment in which chromosomes, or one from each set.
the egg or zygote is formed, it undergoes division, producing
two new cells. These, in turn, divide and each of them gives

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7. During this process, germinal cells start maturing and Failures in Inheritance
changing their form until they become the future gametes or
cells with fertilising capacity. 1. Alteration in the number

8. The end result is that each month, the woman generates an That is, the inheritance received by the daughter cells is different
between them as a result of an error in the distribution: some
ovum that carries the X sex-chromosome, which can be
daughter cells receive more while others receive less
fertilised by any of the millions of spermatozoa that are
chromosomes.
struggling to enter it, of which 50% carry the X-chromosome
and the remaining 50% the Y-chromosome.

9. The possibility of the new individual being a boy or a

girl is always determined by the male, as it is the male
who bears both types of spermatozoa, the X-bearing sex-
chromosome and the Y-bearing sex-chromosome. In
contrast, as the woman only has two X sex chromosomes,
she will always contribute with one ovum containing one
X sex chromosome.

a) In the case of a male, a cell without a tail gives rise to

cells with a tail that are called spermatozoa.This tail
enables spermatozoa to swim from the time of ejaculation
up the uterus and the uterine tubes in the female until they
encounter an ovum which they fertilise.In the end, the
percentage of spermatozoa that carry the X- If gametes that have resulted from an erroneous division fertilise
chromosome is the same as the spermatozoa that carry the egg, then we will find that the individual at issue will have a
the Y- chromosome. greater or lesser number of chromosomes.
b) In the woman, after each meiotic cell division, one of
the two resulting cells is sacrificed, giving to the other For instance,
cell its energy reserves so that if the other cell is fertilised,
it survives while it migrates down the uterine tubes and Children with Down syndrome or trisomy of chromosome 21 are
implants in the uterus. the result of one of the gametes with which they were fertilised,
transmitting two instead of one chromosome from set 21. When
10. In summary, from each male germinal cell, four this gamete united with the gamete from the other progenitor, an
spermatozoa are obtained, two of which are X-bearing sex- egg was “produced” which contained three chromosomes in set 21,
chromosome carriers, and two are Y-bearing sex- instead of the normal two chromosomes.
chromosome carriers. From the female germinal cell, one 2. Alteration in the
ovum carrying the X sex-chromosome is obtained, the structure
possibilities of recombination at the time of fertilisation are
as follows: a. Deletion - In this
case, the distribution
is correct but some
chromosome or
cassette was defective
because it is missing a
tiny part (an alteration
known as “deletion”);
b. Translocation – or this tiny bit had attached to another
chromosome;
c. Inversion – Or it had inverted with the same chromosome,
giving an erroneous reading sequence
d. Duplication - occur when part of a chromosome is copied
(duplicated) too many times

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 flowers. The pink flowers are the result of mixing up both
pigments.
3. Alteration regarding the content
3. Multiple-Allele Inheritance. Although we inherit only
In this case, the transmission of chromosomes is correct, both in
number and in structure, since we have inherited all the chromosomes or two alleles for each gene, some genes exhibit more than two
cassettes, with all the recipes included. However, part of the information allele forms, leading to a phenomenon called multiple-allele
in one of the recipes is incorrect. For instance, if we follow a recipe to inheritance. For example,three alleles determine the ABO
bake a cake, but in the ingredients, instead of sugar they tell us to use salt, blood types in humans:IA,IB and i. Each of us receives two of
the result would be an inedible cake. This, applied to our recipes, would
these. The IA and IB alleles are codominant, and both are
be a malformed or dysfunctional organ. Given that our body has formed
from instructions provided by different recipes, any of them may be expressed when present,resulting in the AB blood type. The i
defective. Consequently, any part or function of our body may be affected allele is recessive to the other two.
with a malformation, anomaly or dysfunction.

Types of Inheritance

1. Dominant-recessive inheritance - reflects the interaction

of dominant and recessive alleles. A simple diagram, called
the Punnett square, is used to figure out,for a single trait,the
possible gene combinations that would result from the
mating of parents of known genotypes.

The Punnett square predicts only the probability of a particular genotype 4. Sex-linked Inheritance. Genes that are carried by either
(and phenotype). The larger the number of offspring,the greater the sex chromosome are said to be sex linked.
likelihood that the ratios will conform to the predicted values—just as the
chances of getting heads half the time and tails half the time increase with Men normally have an X and a Y combination of sex
the number of tosses ofa coin. chromosomes, while women have two X's.  Since only men inherit Y
chromosomes, they are the only ones to inherit Y-linked traits.  Men and
a. A DOMINANT character or trait is when only one of the women can get the X-linked ones since both inherit X chromosomes.
two recipes is expressed, be it the mother’s or the father’s,
with one dominating over the other.
b. When both recipes are identical and are present twice,
they are called RECESSIVE characters or traits

2. Incomplete Dominance. When both recipes are expressed

at the same time but the
resulting character or trait is
an intermediate expression of
both, because neither
dominates over the other;
these characters are said to
present an INCOMPLETE
OR PARTIAL X-linked recessive traits that are not related to feminine body
DOMINANCE, for instance characteristics are primarily expressed in the observable characteristics,
or phenotype, of men.  This is due to the fact that men only have one X
if we cross-breed white
chromosome.  Subsequently, genes on that chromosome not coding for
flowers with red flowers, the descendants will have pink gender are usually expressed in the male phenotype even if they are
recessive since there are no corresponding genes on the Y chromosome in
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most cases.  In women, a recessive allele on one X chromosome is often
masked in their phenotype by a dominant normal allele on the other.  This
explains why women are frequently carriers of X-linked traits but more
Disorder Chromosome Mutation
rarely have them expressed in their own phenotypes.

The "a" Angelman syndrome 15 DCP

The "a"
recessive
recessive Canavan disease 17p
allele
allele
will not
will be
expressed
    be Charcot–Marie–Tooth
expressed 17
in his   disease
in
phenotyp
her
e Color blindness X P
phenotype

  Cri du chat syndrome 5 D

      
male  female
Cystic fibrosis 7q P

DiGeorge syndrome 22q D

Many of the non-sex determining X-linked genes are responsible for
abnormal conditions such as hemophilia , Duchenne muscular
Down syndrome 21 C
dystrophy , fragile-X syndrome , some high blood pressure, congenital
night blindness, G6PD deficiency, and the most common human genetic
disorder, red-green color blindness.  X-linked genes are also responsible Duchenne muscular
Xp D
for a common form of baldness referred to as "male pattern baldness".  dystrophy

Hereditary Disorders Familial

19 P
hypercholesterolemia
Congenital disorders may be caused by any of the following
alterations: Haemochromatosis 6 P

a. Chromosomal: When the chromosome is altered in either Hemophilia X P

the number or structure.
b. Mendelian: When the alteration affects the chromosome Klinefelter syndrome X C
contents or message, that is their genes or recipes.
c. Mitochondrial: Our inheritance is not only in the Neurofibromatosis 17q/22q/?
chromosomes or nucleus DNA. A small amount of it is
found in the mitochondria, a cellular structure located Phenylketonuria 12q P
outside the nucleus, in a region called cytoplasm.
d. Multifactorial: When the disorder or defect is the result 16 (PKD1)
Polycystic kidney disease P
of various genes acting together, plus the interaction of or 4 (PKD2)
these genes with exogenous or environmental factors.
e. Enviromental: Produced by an external cause that affects Prader–Willi syndrome 15 DCP
the individual.
Sickle cell disease 11p P
Most common disorders:
Spinal muscular atrophy 5q DP
 P – Point mutation, or any insertion/deletion entirely
inside one gene Tay–Sachs disease 15 P
 D – Deletion of a gene or genes
 C – Whole chromosome extra, missing, or both (see Turner syndrome X C
chromosome abnormality)
 T – Trinucleotide repeat disorders: gene is extended
in length

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