Germlinesekvensering

Germlinesekvensering, also known as germline sequencing, refers to the analysis of the DNA found in an individual's germ cells, which include sperm and egg cells, as well as the cells that give rise to them. This type of genetic sequencing examines the DNA that can be passed down to offspring. When performed on an individual, it typically involves sequencing DNA from a somatic cell, such as a blood or saliva sample, because these cells carry the same genetic information as the germline.

The primary purpose of germline sequencing is to identify genetic variations that are present from conception and can be inherited. This is particularly important in diagnosing and understanding hereditary diseases. By analyzing the germline DNA, scientists and clinicians can determine if an individual carries gene mutations that may cause or predispose them to certain conditions, and they can assess the risk of passing these mutations on to their children.

Germline sequencing plays a crucial role in genetic counseling, enabling informed decisions about family planning. It is also a fundamental tool in research aimed at understanding human genetic diversity and the genetic basis of diseases that have a hereditary component. The information obtained from germline sequencing is considered germane to an individual's entire lineage, as it reflects the genetic heritage passed down through generations.