Mannsl\u00edkaminn er b\u00fainn til \u00far \u00fdmsum ger\u00f0um af frumum. \u00de\u00e6r eru svo litlar a\u00f0 \u00fe\u00e6r sj\u00e1st bara \u00ed sm\u00e1sj\u00e1. Inni \u00ed frumunum er kjarni og \u00ed \u00feessum kjarna eru litningarnir. \u00deeir eru 46 talsins og skiptast \u00ed kynlitningana X og Y og A-litninga sem eru 44 \u00ed allt. Allir litningarnir eru para\u00f0ir og \u00feannig eru alltaf tveir af hverri ger\u00f0. A-litningar eru 22 p\u00f6r og kynlitningar eitt par.<\/p>\n\n\n\n
\u00deegar egg og s\u00e6\u00f0isfrumur ver\u00f0a til, fer annar af tveimum litningum af hverri ger\u00f0 \u00ed frumuna \u2013 23 litningar. Svo m\u00e6tast s\u00e6\u00f0isfruma og eggfruma vi\u00f0 getna\u00f0 og \u00far ver\u00f0ur okfruma sem hefur 46 litninga, \u00fear sem helmingur hefur komi\u00f0 fr\u00e1 m\u00f6mmu og helmingur fr\u00e1 pabba. <\/p>\n\n\n\n
\u00c1 litningunum sitja svo genin sem eru miklu minni en litningarnir. \u00deau ra\u00f0ast \u00e1 litningana, hvert fyrir sig \u00ed sitt s\u00e6ti. Manneskjur hafa um 25.000 gen sem st\u00fdra starfsemi l\u00edkamans. (Genin eru uppskriftir a\u00f0 pr\u00f3teinum, sem eru byggingarefni l\u00edkamans). \u00dea\u00f0 m\u00e1 (\u00fev\u00ed) l\u00edkja erf\u00f0aefninu vi\u00f0 uppskrift a\u00f0 manneskju. Hvert einasta gen segir til um einhverja starfsemi l\u00edkamans, stundum einn \u00fe\u00e1tt, stundum fleiri. <\/p>\n\n\n\n
\u00dea\u00f0 sem vi\u00f0 k\u00f6llum st\u00f6kkbreytingu \u00ed geni, (e\u00f0a meinvaldandi breytingu \u00ed geni) er heiti \u00e1 varanlegri breytingu \u00e1 erf\u00f0aefni einstaklings. St\u00f6kkbreytingar \u00ed erf\u00f0aefni hafa nokkur heiti og \u00fea\u00f0 getur veri\u00f0 ruglandi. Stundum er tala\u00f0 um st\u00f6kkbreytingar, stundum bara breytingar e\u00f0ameinvaldandi breytingar til a\u00f0greiningar. Svo er l\u00edka tala\u00f0 um erf\u00f0abreytileika og erf\u00f0abrig\u00f0i. <\/p>\n\n\n\n
Ensk heiti eru t.d.: “mutation” “genetic changes” e\u00f0a “pathogenic changes” e\u00f0a “pathogenic variants”. <\/p>\n\n\n\n
Erf\u00f0abreytileiki \u00e1 vi\u00f0 um breytileika \u00ed genum milli einstaklinga. \u00dea\u00f0 \u00fe\u00fd\u00f0ir \u00ed rauninni sm\u00e1breytingar \u00ed genum, sem ekki hafa mikla \u00fe\u00fd\u00f0ingu. <\/p>\n\n\n\n
St\u00f6kkbreyting e\u00f0a mutation er varanleg breyting \u00ed erf\u00f0aefni. N\u00fa er frekar tala\u00f0 um meinvaldandi breytingu e\u00f0a pathogenic variant. \u00deessi heiti eru notu\u00f0 eru \u00ed krabbameinserf\u00f0ar\u00e1\u00f0gj\u00f6finni. <\/p>\n\n\n\n
Breytingar \u00ed erf\u00f0aefni skiptast \u00ed s\u00f3mat\u00edskar breytingar, \u00fe.e. breytingar sem ver\u00f0a \u00ed erf\u00f0aefninu eftir a\u00f0 manneskjan ver\u00f0ur til og \u00fe\u00e6r sem erfast milli kynsl\u00f3\u00f0a eins og t.d. BRCA2<\/em> breytingin. <\/p>\n\n\n\n Krabbamein ver\u00f0a oft til vi\u00f0 s\u00f3mat\u00edskar breytingar e\u00f0a breytingar sem ver\u00f0a eftir a\u00f0 einstaklingur ver\u00f0ur til. Sl\u00edkar breytingar geta or\u00f0i\u00f0 til sj\u00e1lfkrafa vi\u00f0 t.d. frumuskipti, vi\u00f0 geislun e\u00f0a vi\u00f0 notkun \u00fdmissa frumuskemmandi efna. Sk\u00fdrt d\u00e6mi er til d\u00e6mis h\u00fa\u00f0krabbamein eftir s\u00f3lbruna e\u00f0a geislun e\u00f0a lungnakrabbamein eftir reykingar.\u00a0<\/p>\n\n\n\n \u00cd hvert sinn sem fruma skiptir s\u00e9r, \u00fearf h\u00fan a\u00f0 afrita allt erf\u00f0aefni\u00f0 \u00ed n\u00fdju frumuna. \u00deetta er afar mikill texti, hann samsvarar um \u00fea\u00f0 bil 1500 s\u00edmaskr\u00e1m a\u00f0 st\u00e6r\u00f0. Fruman \u00fearf a\u00f0 afrita \u00feetta \u00e1 8 klukkustundum sem er s\u00e1 t\u00edmi sem tekur hana a\u00f0 skipta s\u00e9r. L\u00edkaminn b\u00fdr yfir ansi g\u00f3\u00f0u kerfi til a\u00f0 fylgjast me\u00f0 og gera vi\u00f0 villur \u00ed erf\u00f0aefninu en \u00fe\u00f3 er\u00fea\u00f0 \u00feannig a\u00f0 vi\u00f0 hver frumuskipti ver\u00f0a einhverjar villur eftir og \u00fe\u00e6r halda \u00e1fram \u00ed n\u00e6stu frumuskiptingu<\/p>\n","protected":false},"excerpt":{"rendered":" Mannsl\u00edkaminn er b\u00fainn til \u00far \u00fdmsum ger\u00f0um af frumum. \u00de\u00e6r eru svo litlar a\u00f0 \u00fe\u00e6r sj\u00e1st bara \u00ed sm\u00e1sj\u00e1. Inni \u00ed frumunum er kjarni og \u00ed \u00feessum kjarna eru litningarnir. \u00deeir eru 46 talsins og skiptast \u00ed kynlitningana X og Y og A-litninga sem eru 44 \u00ed allt. Allir litningarnir eru para\u00f0ir og \u00feannig eru alltaf tveir af hverri ger\u00f0. A-litningar eru 22 p\u00f6r og kynlitningar eitt par. \u00deegar egg og s\u00e6\u00f0isfrumur ver\u00f0a til, fer annar af tveimum litningum af […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-fullwidth.php","meta":{"ngg_post_thumbnail":0},"_links":{"self":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/2800"}],"collection":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=2800"}],"version-history":[{"count":5,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/2800\/revisions"}],"predecessor-version":[{"id":2811,"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=\/wp\/v2\/pages\/2800\/revisions\/2811"}],"wp:attachment":[{"href":"https:\/\/www.primarycaregenetics.org\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=2800"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}