Linkage studies

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Linkage Studies

Linkage studies (pronunciation: /ˈlɪŋkɪdʒ ˈstʌdiz/) are a type of genetic study used to locate and identify genes associated with specific diseases. The term originates from the concept of 'linkage', which in genetics refers to the tendency of DNA sequences that are close together on a chromosome to be inherited together.

History

The concept of linkage was first introduced by the British geneticist William Bateson and his colleagues in the early 20th century. However, it was not until the advent of molecular genetics in the mid-20th century that linkage studies became a practical tool for disease gene identification.

Methodology

Linkage studies typically involve the comparison of genetic markers in affected and unaffected family members. The aim is to identify markers that are consistently inherited with the disease, suggesting that they are close to the disease gene on the chromosome. This is known as a linkage analysis.

Applications

Linkage studies have been instrumental in the identification of genes associated with numerous diseases, including Huntington's disease, cystic fibrosis, and Alzheimer's disease. They are also used in breeding programs to improve crop and livestock species.

Limitations

While linkage studies have proven invaluable in disease gene identification, they are not without limitations. These include the need for large families with multiple affected individuals, the possibility of genetic heterogeneity, and the difficulty in distinguishing between true linkage and chance co-segregation.

Related Terms

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