It is important to understand the basic laws of inheritance to appreciate how conditions are passed on in a family. An accurate family health history is a valuable tool to illustrate how conditions are passed down through generations.
A person has two copies of almost every gene, one copy from mom and one copy from dad. Scientists have studied human genes to learn how they normally work and how changes in genes can change how they work. Some changes are very minor and do not affect the way a gene works. These changes are often called single nucleotide polymorphisms (SNPs, pronounced “snips”) or gene variants. Other changes, called mutations, affect how a gene works and can lead to disease.
For some conditions, family members with the same mutation may not have the same symptoms. For other conditions, individuals with different mutations can have similar characteristics. This is because gene expression is influenced by genes, as well as by the environment.
Diseases caused by mutations in a single gene are usually inherited in a simple pattern, depending on the location of the gene and whether one or two normal copies of the gene are needed. This is often referred to as Mendelian inheritance because Gregor Mendel first observed these patterns in garden pea plants. Most single gene disorders are rare; but, in total, they affect millions of people in the United States.
Several basic modes of inheritance exist for single-gene disorders: autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. However, not all genetic conditions will follow these patterns, and other rare forms of inheritance such as mitochondrial inheritance exist.
#inbreeding #coefficientOfInbreeding #Genetics #kinsheep #alelle #locus #Gene
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