Human Heredity

Chapter 14

Human Chromosomes

To understand what a human is, biologists have began studying inside the human cell, to the chromosomes. Biologists examine cells at the time of mitosis. Cutting out the chromosomes from photographs and grouping them together. Making what is known as a Karyotype

Terms and Definitions

Chromosome - is an organized package of DNA found in the nucleus of the cell. Humans have 23 pairs of chromosomes--22 pairs of numbered chromosomes, called autosomes, and one pair of sex chromosomes, X and Y. Each parent contributes one chromosome to each pair so that offspring get half of their chromosomes from their mother and half from their father.

Terms and Definitions

Haploid- Haploid is the quality of a cell or organism having a single set of chromosomes. Organisms that reproduce asexually are haploid. Sexually reproducing organisms are diploid (having two sets of chromosomes, one from each parent). In humans, only their egg and sperm cells are haploid. Diploid- is a cell or organism that has paired chromosomes, one from each parent. In humans, cells other than human sex cells, are diploid and have 23 pairs of chromosomes.

Terms and Definitions

Sex Chromosomes- A sex chromosome is a type of chromosome that participates in sex determination. Humans and most other mammals have two sex chromosomes, the X and the Y. Females have two X chromosomes in their cells, while males have both X and a Y chromosomes. Egg cells all contain an X chromosome, while sperm cells contain an X or Y chromosome. This arrangement means that it is the male that determines the sex of the offspring when fertilization occurs.

Terms and Definitions

Autosomes- An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes. Autosomes are numbered roughly in relation to their sizes. That is, Chromosome 1 has approximately 2,800 genes, while chromosome 22 has approximately 750 genes.

Human Traits

Human genes are inherited. Using the same principles as set out by Gregor Mendel and his peas. Using a pedigree chart we can show relationships within a family.

80 generation pedigree chart

Human Genes
Blood Groups- blood groups come in a variety of types. Blood groups AB+ O+ B+ A+ AO BAB

Rh Blood Group
Rh blood group is determined by a single gene with two alleles positive and negative. The positive (Rh+) allele is dominant. So a person with Rh+/Rh+ or Rh+/Rhare said to be Rh-positive. Those with two Rh- alleles are Rhnegative.

ABO blood group

There are three alleles for this gene Ia, Ib, and i. Ia and Ib are codominant and they produce molecule know as antigens on the surface of red blood cells Individuals with alleles Ia and Ib produce the blood type AB. The i is recessive. People with Ia Ia or Iai produce only A antigens People with Ib Ib or Ibi produce only B antigens. Those with ii allele produce no antigen and have the blood type O.

Recessive Alleles
Human genes have become known through the study of genetic disorders. Cystic Fibrosis Sickle Cell Anemia Tay Sachs Disease

From Gene to Molecule

What is the link between the DNA bases in the allele for genetic disorder and the disorder itself? In both cystic fibrosis and sickle cell disease, a small change in the DNA of a single gene affects the structure of a protein, causing a serious genetic disorder.

Cystic Fibrosis
CF, is common among people whose ancestors came from Northern Europe. The disease is caused by a recessive allele on chromosome 7. Children with CF ha serious digestive problems, and produce a thick heavy mucus that clogs the lungs

Sickle Cell Disease

Common genetic disorder found in African Americans. Red blood cells are bent and twisted shape of a sickle and tend to get stuck in the capillaries. Result: blood stops moving through the vessels, damaging cells, tissues and organs.

SCD Cont
Why do so many African Americans carry the SC allele? Most African Americans can trace their ancestry to West Central Africa. Malaria, a parasitic disease infects red blood cells is common in that area.

Huntingtons Disease
Huntington's Disease (HD) is a brain disorder that affects a person's ability to think, talk, and move. The disease destroys cells in the basal ganglia, the part of the brain that controls movement, emotion, and cognitive ability. HD is caused by a mutation in a gene on chromosome. Huntington's disease is inherited in an autosomal dominant pattern. This means that everyone who inherits the faulty gene will eventually get the disease.

Sex-Linked Genes
Is there is a special pattern of inheritance for genes located on the X chromosome or the Y chromosome? YES!!! These chromosomes determine sex, genes located on them. They are called sex-linked genes.

X Chromosome
The X chromosome carries nearly 1,000 genes but few, if any, of these have anything to do directly with sex. However, the inheritance of these genes follows special rules. These arise because: males have only a single X chromosome almost all the genes on the X have no counterpart on the Y. Any gene on the X, even if recessive in females, will be expressed in males.

X-Linked

Genes inherited as previously mentioned are described as sex-linked or, more precisely, X-linked.

Hemophilia

Hemophilia is a blood clotting disorder caused by a mutant gene encoding either,

1) clotting factor VIII, causing hemophilia A

2) clotting factor IX, causing hemophilia B

Both genes are located on the X chromosome (shown here in red). With only a single X chromosome, males who inherit the defective gene (always from their mother) will be unable to produce the clotting factor and suffer from difficult-tocontrol episodes of bleeding
X Y

XX

XY

Xh

XhX

XhY

Heterozygous females are called "carriers" because although they show no symptoms, they pass the gene on to approximately half their sons, who develop the disease, and half their daughters, who also become carriers.

Queen Victoria

Y Chromosome
Each person normally has one pair of sex chromosomes in each cell. The Y chromosome is present in males, who have one X and one Y chromosome, while females have two X chromosomes. Many genes are unique to the Y chromosome, but genes in areas known as pseudoautosomal regions are present on both sex chromosomes. As a result, men and women each have two functional copies of these genes. Many genes in the pseudoautosomal regions are essential for normal development.

Y Genetic Disorder
Many genetic conditions are related to changes in particular genes on the Y chromosome. A. Langer mesomelic dysplasia B. Lri-Weill dyschondrosteosis C. Swyer syndrome D. 46,XX testicular disorder of sex development E. Y chromosome infertility

Chromosomal Disorders
These are common errors in meiosis. The most common occurs when homologous chromosomes fail to separate. This is called nondisjunction. If nondisjunction occurs, abnormal numbers of chromosomes may find their way into gametes, and a disorder of chromosome numbers may result.

Down Syndrome

Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability.. The average IQ of a young adult with Down syndrome is 50, similar to the mental age of an 8 or 9 year old child, but this varies widely.