Gene dose

The gene dose is a measure of the number of identical genes present in an individual .

Autosomal

The genes that are not located on the sex chromosomes are referred to as autosomal . In humans, for example, they consist of 44 chromosomes in 22 pairs. In the normal case, the created genes are therefore present twice ( diploid ).

If a gene is now present in triplicate due to a genetic disorder (e.g. due to triploidy or gene duplication ), one speaks of a 150 percent gene dose and, in the case of a single presence ( haploidy ), of a 50 percent.

However, the use of the term in the literature is not entirely uniform. Some authors also refer to the single presence of a gene ( haploidy ) as a “single gene dose” and the rule of double presence ( diploidy ) as a “double gene dose”.

Gonosomal

In sex chromosomes , the genes present in men (only one X chromosome ) are usually referred to as single and those in women (two X chromosomes) as double dose.

Individual evidence

1. ↑ Christian P., ea: Pädiatrie , Springer, 2009, p. 285, ISBN 3-540-69479-X , here online
2. ↑ ^{a b} Böcker W., ea: Pathologie , Urban & FischerVerlag, 2008, p. 150, ISBN 3-437-42382-7 , here online
3. ↑ Lautenbacher S., ea: Brain and Gender: Neuroscience of the Small Difference Between Women and Men , Springer, 2007, p. 23, ISBN 3-540-71627-0 , here online

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