HUMAN GENETICS

HUMAN CHROMOSOMES

HUMAN CHROMOSOMES
In 1956, a new field in the

study of chromosomes, called Cytogenetics, began with the discovery of 23 pairs of chromosomes in the human somatic cells by Joe Hin Tijo and Albert

These include the finding

that the human chromosomal aberrations are the major cause of fatal death and human tragic disease, many of which are accompanied

The conventional

representation of chromosomes is called Kartotype.

KARTOTYPE OF FEMALE HUMAN CHROMOSOME

A normal female has

two X chromosomes, and thus is said to be homogametic, that is , all her gametes have one type of chromosome.

The male is

heterogametic, as he produces two types of gametes one type containing an X chromosome and the other type containing Y

Human Sex Determination

Human Sex Determination Sex determination in humans depends basically on the presence of the Y chromosome in the fertilized egg.

In the fetus, this

chromosome stimulates the undifferentiated sex organ to change into the male gonads (testes).

The Genetics of Human Blood Types

The Genetics of Human Blood Types

The inheritance of the

ABO blood types is influenced by multiple A B alleles, namely, I , I , A B and i. I and I are condominant while i is recessive.

The alleles I and I are

responsible for the production of antigens, which are protein molecules that elicit immune response.

The Blood Type of an

individual is based on the presence of these alleles on the cells.

Blood Group Classification

Type A blood is due to

the presence of allele I , which codes for production of antigen A on the surface of the red blood cells for the production of antibodies

Blood type B is due to the

presence of allele I which codes for the production of antigen B and antibodies against antigen A.

An individual with both I

B

and I has blood type AB, with both antigens present on the surface of the red blood cells but there is no production of antibodies against this antigens.

A type O blood does not

have alleles I and I . The red blood cells have no antigen on the surface but produces antibodies against A and B.

Another human blood type

system is the rhesus or RH system. The Rhesus (or Rh) factor is named after the rhesus monkeys from whose blood cells it was first discovered.

Sex Linked Traits in Humans

Sex Linked Traits in Humans At least 115 genes on the X chromosome in humans have no counterpart on the Y chromosome. Traits influenced by these

These traits cannot be

transmitted from male to male;

These traits cannot be

transmitted from male to male; Carrier females, those who carry these genes on one of their X chromosomes, have 50% chance of passing these genes to their

Fathers will pass on the

genes to their daughters, who will become carriers of these genes.

Hemophilia or Bleeders Disease

Hemophilia or Bleeders Disease

Individuals who have

inherited the recessive allele for one of these genes will experience continuous bleeding even from minor cut or injuries.

Hemophilia

Color Blindness

Color Blindness
The dominant allele

produces normal color vision while the recessive allele causes color blindness. One form of color blindness is the inability to distinguish between red and green.

Autosomal Sex Related Traits

Autosomal Sex Related Traits Certain traits are more commonly found in one sex than in the other. Such traits are expressed not only by genes found in the sex chromosomes but also by those found in the

Sex Limited Traits

Sex Limited Traits Traits that are expressed in only one sex but not in the other due to the activation of sex hormones.

Sex Influenced Traits

Sex Influenced Traits Traits that are expressed differently in two sexes due to the influence of sex hormones.

Autosomal Genetic Disorders

Autosomal Genetic Disorders A number of genetic defects carried on the autosomes include Sickle Cell Anemia, Cystic Fibrosis, Tay Sachs disease, Phenylketonuria and Huntingtons disease.

Sickle Cell Anemia

Sickle Cell Anemia

Cystic Fibrosis

Cystic Fibrosis

Tay Sachs Disease

Tay Sachs Disease

Phenylketonuria (PKU)

Phenylketonuria (PKU)

Huntingtons Disease

Huntingtons Disease

END