Vaše geny nebo moje, nakolik se lišíme?

Po jistý čas byli vědci přesvědčeni, že jednotlivé lidské bytosti jsou z 99,9% geneticky identické. Oněch 0,1% genomu, které se lišily (zhruba 3 miliony bází DNA), tvořily „jednonukleotidové polymorfismy“ (modifikace individuálních bází DNA) rozptýlené po celém genomu. Myslelo se, že některé z těchto modifikací DNA mohou částečně vysvětlovat některé tělesné odlišnosti mezi dvěma různými, ale jinak běžnými jedinci.

V létě roku 2004 dvě skupiny vědců pracující nezávisle na sobě (jedna vedená výzkumníky lékařské fakulty Harvardovy univerzity a Brighamovy a ženské nemocnice v Bostonu a druhá pod vedením výzkumníků Cold Spring Harbor Laboratories) toto dogma zpochybnily. Jejich výzkum určil stovky oblastí lidského genomu, kde se jedinec od jedince lišila celá řada kopií konkrétního segmentu DNA. Až na několik málo výjimek se myslelo, že segmenty DNA existují ve dvou kopiích (jedna kopie zděděná po matce, druhá kopie zděděná po otci).

Obě studie prokázaly, že existují stovky oblastí genomu, které mohou mít více nebo méně kopií než očekávané dvě. To vědce upozornilo na existenci většího zdroje genetické variace, než se dříve myslelo, a přimělo nás to spekulovat o důsledcích tohoto objevu.

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