Some examples of monogenetic disorders include: cystic fibrosis, sickle cell anemia, Marfan syndrome, Huntington's disease, and. hemochromatosis.‎Marfan syndrome · ‎What Is Cystic Fibrosis? · ‎Hereditary Hemochromatosis. The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is. These are called genetic disorders, or inherited diseases. Since genes are passed from parent to child, any changes to the DNA within a gene are also passed.


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Genes and Inherited Diseases

An example of this type of disorder is Leber's hereditary optic neuropathy. It is important to stress that the vast majority of mitochondrial disease particularly when symptoms develop in early life is actually caused genetically inherited diseases an underlying nuclear gene defect, and most often follows autosomal recessive inheritance.

Multifactorial disorders include heart disease and diabetes. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. Complex disorders are also difficult to study and treat, because the specific factors that cause most of these disorders have not yet genetically inherited diseases identified.


Studies genetically inherited diseases aim to identify the cause of complex disorders can use several methodological approaches to determine genotype - phenotype associations. One method, the genotype-first approachstarts by identifying genetic variants within patients and then determining the associated clinical manifestations.

Genes and Inherited Diseases

This is opposed to the more traditional phenotype-first approach, and may identify causal factors that have previously been obscured by clinical heterogeneitypenetranceand expressivity. On a pedigree, polygenic diseases do tend to "run in families", but the inheritance does not fit simple patterns as with Mendelian diseases.

A rearrangement of a chromosome segment from one location to another, either within the same chromosome or to another. The DNA is equally exchanged between chromosomes, and none is lost or genetically inherited diseases. A parent with a balanced translocation is healthy, but he or she may be at genetically inherited diseases for passing unbalanced chromosomes in a pregnancy.

A balanced translocation in which one chromosome joins the end of another. The presence of two or more chromosome patterns in the cells of a genetically inherited diseases, resulting in two or more cell lines for example, some with 46 chromosomes, others with What are single gene disorders?

These genetically inherited diseases also known as Mendelian inheritance disorders, from the first genetic work of Gregor Mendel. In these disorders, a single gene is responsible for a defect or abnormality.

Single gene disorders usually have greater risks of inheritance.

  • Genetic Disorders
  • Genetic disorders - Better Health Channel
  • Genetics - Genetic inheritance - NHS
  • Genetic disorders
  • List of genetic disorders
  • Genetic Disorders

Single genetically inherited diseases disorders can be: An abnormality occurs when only one of the genes from one parent is abnormal. If the parent has the disorder, the baby has a 50 percent chance of inheriting it.

Genetic disorder - Wikipedia

Changes in number of chromosomes Most people have 23 pairs of chromosomes, or 46 chromosomes in all. When the egg or sperm is made, the pairs split so that each egg or germ cell only contains 23 chromosomes.

Occasionally genetically inherited diseases error occurs during the division: A well-known example of this type of genetic disorder is Down syndrome, where a person has 47 chromosomes rather than Babies are rarely born with changes in chromosome numbers because most of these pregnancies end in miscarriage.

Genetically inherited diseases in chromosome structure Sometimes the information contained in a chromosome breaks up and the pieces reform in a different pattern.

For example, a fragment of chromosome may break off and be lost during the formation of either the egg or sperm cell.

Types of Genetic Diseases

In other cases, a fragment of chromosome may copy itself or the ends of the chromosome may join to form a ring.

Uniparental disomy Uniparental disomy means the child genetically inherited diseases a particular gene pair both copies of the gene from one parent only.


This can cause a disorder if it is necessary for the child to have inherited one such gene from each parent.