Mechanism of Inheritance

Genetics is the science of the way traits are passed from parent to offspring Continuity of the species depends upon the genetic code being passed from parent to offspring Genetic inheritance begins at the time of conception. You inherited 23 chromosomes from your mother and 23 from your father.

 Together they form 22 pairs of autosomal chromosomes and a pair of sex chromosomes Homologous chromosomes have the same genes in the same positions, but may have different alleles (varieties) of those genes There can be many alleles of a gene within a population, but an individual within that population only has two copies, and can be homozygous (both copies the same) or heterozygous (the two copies are different) for any given gene

DNA
DNA or deoxyribonucleic acid,is the macromolecule that stores the information necessary to build structural and functional cellular component. It also provides the basis for inheritance when DNA is passed from parent to offspring. The union of these concepts about DNA allows us to devise a working definition of a gene

Genes
Genes are the blueprint for our bodies. Almost every cell in the human body contains a copy of this blueprint, mostly stored inside a special sac within the cell called the nucleus. A gene is a segment of DNA that codes for the synthesis of a protein and acts as a unit of inheritance that can be transmitted from generation to generation The gene contain the information used by our cells to control our growth, development and functioning

 Genes are part of chromosomes. The 23.000 or so genes that make up each person come in pairs. A sperm and an egg each contain one copy of every gene needed to make up an individual ( one set of 23 chromosomes each. When the sperm fertilises the egg, two copies of each gene are present ( 46 chromosomes) and new life can begin.

 The mothers egg contribute an X, while the fathers sperm provides either an X or a Y. An XX pairing means the chils is female, while an XY pairing means the child is male. Genotype is the actual pair of genes that a person has for a trait of interest A Phenotype is the organisms physical appearance as it relates to a certain trait

Inheritance Pattern
Autosomal dominant - Only one mutated copy of the gene is needed for a person to be affected by an autosomal dominant disorder - Each affected person usually has one affected parent - There is a 50% chance that a child will inherit the mutated gene - Ex : Huntingtons disease

 Autosomal recessive - Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder - An affected person usually has unaffected parents who each carry a single copy of the mutated gene ( carries) - Two unaffected people who each carry one copy of the mutated gene have a 25% chance with each pregnancy of having a child affected by the disorder. - Example: Sickle cell anemia, cystic fibrosis

 X-linked dominant - X-linked dominant disorders are caused by mutations in genes on the X chromosome - Females are more frequently affected than males, and the chance of passing on an X-linked dominant disorder differs between men and women. - The sons of a man with an X-linked dominant disorder will not be affected, and his daughters will all inherit the condition. - A woman with an X-linked dominant disorder has a 50% chance of having an affected daughter or son with each pregnancy - ex: Aicardi syndrome

 X-linked recessive - X-linked recessive disorders are also caused by mutations in genes on the X chromosome - Males are more frequently affected than females, and the chance of passing on the disorder differs between men and women. - The sons of a man with an X-linked recessive disorder will not be affected, and his daughters will carry one copy of the mutated gene

- With each pregnancy, a woman who carries an X-linked recessive disorder has a 50% chance of having sons who are affected and a 50% chance of having daughters who carry one copy of the mutated gene ex : hemophilia A

 Y-linked - Y-linked disorders are caused by mutations on the Y chromosome. - Only males can get them, and all of the sons of an affected father are affected. - Since the Y chromosome is very small, Ylinked disorders only cause infertility

Mendels Laws
Principle of segregation : two members of a gene pair segregate from each other in the formation of gametes; half the gametes carry one allete, and the other half carry the other allele What it means : each gene has two copies and a parent will give only one copy to a child. The other parent will give another copy, and thus the chils will receive two copies (alleles) one from each parent. Each child will literally be half-mom and half-dad

 Principle of independent assortment: Genes for different traits assort independently of one another in gamete production What is means: different genes are inherited separately. For example, the gene which codes for eye color is inherited separately from the gene which codes for nose shape

Mendelian Concepts
Dominant : only one allele of the gene necessary to express the trait Recessive : both alleles of a gene must be identical to express the trait Heterozygous : alleles of a particular gene are non-identical Homozygous : alleles of a particular gene are identical

Applying Mendelian Concepts

Parent 2
Allele 1 A1/A1 Allele 2 A1/A2

Allele 1 Parent 1 Allele 2

A2/A1

A2/A2

Homozygous dominat + Homozygous dominant A A AA A AA A

Homozygous dominat + Heterozygous A A AA AA

AA

AA

Aa

Aa

Homozygous dominat + Homozygous resesive a A Aa a Aa A

Heterozygous + Heterozygous A AA a Aa

Aa

Aa

Aa

aa

Example
Dan and Kim are going to have a baby. Kim has dimples in her cheeks (a dominant trait), while Dan does not. What are the chances Dan and Kims baby will have dimples?

 Dan has the recessive trait (no dimples) - he must have two recessive alleles - dans genotype can be represented as dd Kim has the dominat trait (dimples) - but kim could be homozygous dominant or heterozygous dominat - kims genotype can either DD or Dd - which one is it?

More information
What if you knew something about Kims parents? How could that help?

Kims Parents
Kims father has dimples in both cheeks, while her mother does not Her mother must have the recessive trait and therefore has to have the genotype dd kims father has the dominant trait, but we dont know if he a homozygote or heterozygote. He could be DD or Dd just like Kim !

 But we still know what Kims genotype must be. Why? Kim must have a recessive allele (d) since that is all she could have inherited from her mother Since Kim has dimples, we know she inherited dominant allele (D) from her father - it doesnt matter if Kims father is DD or Dd; whichever it is, he passed on a D to his daughter

 What are the chances Kim and Dans baby will have dimples?
Kim
D

d Dan d

Kim

d dd dd

d
Dan

Dd Dd

50% chance the baby will have the genotype Dd and have dimples 50% chance the baby have genotype dd and not have dimples