Ho hlahlojoa ha liphatsa tsa lefutso ho ka u bolella ka liphatsa tsa lefutso tsa hao le histori ea lelapa la hau
'Mele oa hau o entsoe ka lisele tse libilione. Ka har'a sele e 'ngoe le e' ngoe ke sebopeho se bitsoang nucleus, se nang le lihlopha tse 23 tsa li-chromosome tse nang le tlhahiso ea hau ea liphatsa tsa lefutso. Chromosome e 'ngoe le e' ngoe e entsoe ka mohala o molelele o kang DNA, o entsoeng ka lik'hemik'hale tse bitsoang deoxyribonucleic acid (DNA).
Karolo ea li-chromosome tsa hau e futsitsoe ho 'm'ao' me halofo e 'ngoe e futsitsoe ho ntat'ao, eu fa likopi tse peli tsa liphatsa tsa lefutso.
Batho ba na le liphatsa tsa lefutso tse ka bang 25 000 ka kakaretso. DNA ea hau e latellana le lihlopha tsena tse peli tsa liphatsa tsa lefutso.
Liphatsa tsa lefutso tsa hau li na le tlhahisoleseding mabapi le se etsang hore u, uena. Bobeli ba lipatlisiso ba ekelletsa ho etsa motsoako o ikhethang, joaloka khoutu, e bolellang 'meleng oa hao hore na u tla ba le moriri o mosoeu, letlalo la mohloaare kapa mahlo a' mala o motle oa ho phunya. DNA ea hau e boetse e bolella lisele tsa hau hore na li itšoare joang, li hōle joang, le hore na li tla shoa neng.
Nahana ka DNA ea hau joalokaha eka e le lere. Litepisi tsena li entsoe ka li-base tsa nucleotide. Ts'ebetso ea lits'ebeletso tsa motheo e tšoana le litlhaku tsa alfabeta. Mangolo ana, le eena, a hlophisitsoe ka litsela tse hlalosang "mantsoe". Mantsoe ana a fetisitsoe (a kopitsoe) mme a fetoleloa (ho hlalosoa) ho liprotheine (li-enzyme) tse laolang ntho e 'ngoe le e' ngoe 'meleng ea rona. Haeba liphatsa tsa lefutso li fetoha, u ka nahana ka eona ho kopanya litlhaku tsa alfabeta. Lentsoe le tsoa hantle 'me polelo eohle e fosahetse. Haeba liphatsa tsa lefutso kapa sebaka sa DNA li ikarabella mosebetsing oa bohlokoa, mathata a hlaha.
Haeba e etsoa bakeng sa liprotheine tse laolang likarohano tsa sele, kankere e ka hlaha. Ka linako tse ling DNA e ngata, joaloka li-chromosome tse tharo ho e-na le tse peli, e ka lebisa maemong a liphatsa tsa lefutso tse kang Down syndrome.
Ho fumana DNA ea hau e lekoa
Ha o etsa tlhahlobo ea DNA ea hau, DNA ea hau e senola ebile e baloa. Kaha sele e 'ngoe le e' ngoe e na le DNA e fetang limithara tse tšeletseng ka har'a sele e 'ngoe le e' ngoe (DNA e koetsoe ka thata ho etsa hore kromosome e kene ka hare ho eona, sele e 'ngoe le e' ngoe e ka tšoara boitsebiso bo bongata ba lefutso ho motho leha e le mang ho seng joalo.
Sekhetho se le seng feela ke mafahla a tšoanang, a arolelanang DNA e tšoanang.
Ho etsa tlhahlobo ea DNA, o tla hloka sampuli ea lisele tsa hau. Sampula ena e ka ba ea mali, marapo, lisele tsa letlalo kapa esita le ka har'a lerama la hao. Haeba u tšoeroe ke kankere, DNA ea hao e tla nkoa ka sampong ea hlahala ea hau. Hangata, lisele tsa test DNA li nkoa ke ngaka kapa tleliniki 'me li isoa lekaleng le ikhethang la ho hlahloba liphatsa tsa lefutso moo DNA ea hau e arohanang le lisele tsa hau.
Bakeng sa teko ea mali, nale le sering li lokela ho hula sampuli ea mali. E le hore u fane ka lisebelisoa tsa mashala, u tšoela ka mathe. Bakeng sa lerama la swab, ho hlakola ka hare lerameng la hao ka swaboto e kholo ea k'hothone e lokela ho etsa mosebetsi.
Ho tla nka beke kapa ho feta bakeng sa lits'ebetso tse tla khutla ho tloha ho laboraka, kaha ho hlokahala hore basebetsi ba laboraka ba fihle nako ea ho hlakola le ho bala liphatsa tsa lefutso tse hlahisang DNA strand.
Tlhahlobo ea mafu a liphatsa tsa lefutso
Haeba ngaka ea hao e belaella uena kapa ngoan'a hao a e-na le bothata ba liphatsa tsa lefutso, ba tla laela liteko tse eketsehileng ho hlahloba bothata. Bo-rasaense ba ka 'na ba batla phetoho liphatsa tse itseng tsa lefutso tse amanang le lefu le itseng la liphatsa tsa lefutso. Ho hlahlojoa ha DNA ho ka boela ha khona ho khetholla litho tsa lelapa tse nang le kotsing kapa tse kotsing, ho ntlafatsa bothata ba liphatsa tsa lefutso.
Tlhahlobo e tloaelehileng ke teko ea phenylketonuria , e etsoang ho masea ohle a sa tsoa tsoaloa. Haeba ngoana oa hao, ka lebaka la ho futhumala kapa ho fetoha, ha a na liphatsa tsa lefutso tse hlalosang phantylalanine hydroxylase, phylalaine eo ba e jang e ka baka tšenyo ea kelello. Leha ho le joalo, haeba liphatsa tsa lefutso tse sa tloaelehang li fumanoa nakong ea tsoalo, bana ba ka phela bophelo bo tloaelehileng ka ho latela lijo tse thibelang.
Tlhahlobo e 'ngoe eo ngaka eo u ka e laelang ke karyotype . Karyotypes sheba li-chromosome ka DNA. Likopi tse eketsehileng tsa DNA kapa likheo tse sieo li ka bontša hore liphatsa tsa lefutso li fosahetse. Haeba ngoana oa hao a na le li-chromosome tse 47 ho e-na le li-46 tse tloaelehileng 'me a na le li-chromosome tse tharo tse 21 ho e-na le tse peli, ba na le lefu la Down's .
Down syndrome ke ntho e sa tloaelehang ka ho fetisisa ea chromosomal. Bokhachane ba nang le li-chromosome tse sa tloaelehang ba qetella ba senyeheloa ke mpa. Haeba u na le histori ea ho senyeha ha maikutlo ka makhetlo a mangata, ngaka ea hau e ka 'na ea khothaletsa liteko tsa karyotype tsa batsoali.
Maemong a mang, mohlomong ha u na liphatsa tsa lefutso, empa haeba u e-na le kopi e sa tloaelehang liphatseng tsa hao tsa lefutso, u ipeha kotsing ea ho fetisetsa boemo ho bana ba hao. Mohlala oa sena ke cystic fibrosis. Cystic fibrosis ke boemo bo feteletseng ba autosomal, ho bolelang hore u tlameha ho rua kopi e sa tloaelehang ea liphatsa tsa lefutso tsa CFTR ho batsoali ba hao ka bobeli e le hore u fumane lefu lena. Batsoali ba ka 'na ba khetha ho ba le tlhahlobo ea liphatsa tsa lefutso bakeng sa cystic fibrosis ho bona hore na ke bajari.
Haeba u na le mofuta o itseng oa liphatsa tsa lefutso, ngaka ea hao e ka 'na ea eletsa tlhahlobo ea liphatsa tsa lefutso tsa preimplantation, e sebelisoang ho bona hore na lesea le emolelitsoeng ka in vitro fertilization (IVF) le na le bothata ba liphatsa tsa lefutso hammoho le li-embryos bakeng sa ho kenya letsoho ntle le lefu lena.
Tšebeliso e 'ngoe ea bongaka ea tlhahlobo ea liphatsa tsa lefutso e sheba li-tumor. Li-tumor tse ngata li na le liphetoho tsa lefutso tse "khanna" khōlo ea tsona. Ho hlahlojoa ha liphatsa tsa lefutso ho ka bolela hore na kankere e itseng e na le phetoho ea liphatsa tsa lefutso e ka sebelisoang ka phekolo ea moriana. Boholo ba liphetoho tsa liphatsa tsa mafu tsa kankere li hlaha ka mor'a ho tsoaloa 'me ha li na lefa ntle le BRCA1 le BRCA2, tse amanang le kankere ea matsoele.
Mefuta e meng ea ho hlahlojoa ha liphatsa tsa lefutso
Ho hlahlojoa ha bana ho netefatsa hore ngoana oa hau o na le liphatsa tsa lefutso le ntat'a bona. Liteko tsa paternity li nkoa e le tse ka tšeptjoang ka mokhoa o le mong o sa tloaelehang, oa chimer. Haeba u le chimera, lisele tsa hau li ka ba le DNA e fapaneng. Sena se etsahala khafetsa mafahla, a arolelanang DNA le mafahla a mang; ho bo-'mè ba tsoetseng pele 'me e ka' na eaba ba nkile DNA e tsoang ho lesea la bona, le ba nang le tšelo ea mali kapa litho tsa 'mele. Mosaic Down syndrome ke mofuta o mong oa chimera.
Ho hlahlojoa ha liphatsa tsa lefutso ho boetse ho sebelisoa litšoantšo tsa tlōlo ea molao Lihlopha tsa lipatlisiso tsa lipatlisiso li sebelisa liteko tse khethehileng ho eketsa boholo ba DNA e fumanehang bakeng sa tlhahlobo. DNA sebakeng sa tlōlo ea molao e ka tsoa lisele tsa mali, semela sa semela, kapa lisele tse ling tsa 'mele tse kang moriri kapa masapo. DNA ea mitochondrial ha e sebelisoe hangata ho li-forensics.
Tšebeliso e ntseng e eketseha ea liteko tsa liphatsa tsa lefutso ke tlhahlobo ea baholo DNA e tsoang ho batho ba babeli e ka bapisoa le ho bona hore na e tšoana le litsela tse ling tsa bohlokoa tse ka bolelang hore li amana. DNA ea Mitochondrial, ho fapana le DNA ea nyutlelie, ha e fumanoe karolong ea sele e 'ngoe le e' ngoe, empa e fumanoa melengchondria - organelles ka cytoplasm ea seleng e sebetsang e le motlakase oa seleng 'me e na le chromosome e le' ngoe feela e phuthetsoe ka selikalikoe. DNA ea mitochondrial e khutšoanyane haholo ho feta DNA ea nyutlelie 'me e na le setšoantšo (liphatsa tsa lefutso tse 37 feela) bakeng sa likokoana-hloko tse fokolang tsa metabolism.
DNA ea mitochondrial e fetisoa ho tloha ho 'mè feela. Tlhahlobo ea DNA ea mitochondrial ha e fane ka boitsebiso leha e le bofe ka ntat'ao empa e ka thusa ho tseba moloko oa bo-'mè-esita le lilemo tse ngata nakong e fetileng. DNA ea mitochondrial, ho fapana le DNA ea nyutlelie e bonolo haholoanyane mme e ka sebelisoa ho etsa bonyane (bonyane bakhachane) esita le ha ho se na DNA ea nyutlelie e teng.
Litšenyehelo tsa mafu a liphatsa tsa lefutso ke bokae?
Tefo ea teko ea DNA e itšetlehile ka hore na ke tlhahlobo ea mofuta ofe e lokelang ho etsoa. Liteko tse ling tse bonolo, joaloka liteko tsa paternity kapa tse sebelisetsoang liphetoho tse bonolo tsa liphatsa tsa lefutso, li ka 'na tsa reka makholo a seng makae a lidolara kapa tse seng kae. Liteko tse thata haholoanyane, tse kang tsa mafu a sa tloaelehang a liphatsa tsa lefutso, li ka reka liranta tse likete. Ka lehlohonolo, ka lebaka la liphatsa tsa tlhaho tsa lefutso le lik'hamphani tse fanang ka tlhahlobo ea baholo, liteko tse tloaelehileng li fokotsehile ka theko.
Melao ea ho hlahlojoa ha liphatsa tsa lefutso
Ha ho na phehisano e kholo mabapi le tšebeliso ea liteko tse ling tsa bokhachane. Haeba maemo a itseng a fumanoa nakong ea tsoalo, joalo ka phenylketonuria, ngoan'a hao a ka ba le bokamoso bo botle. Leha ho le joalo, hase maemo 'ohle a liphatsa tsa lefutso a ka alafshoang' me a mang ha a hlahe ho fihlela e le motho e moholo. Lefu la Huntington, lefu le tsoelang pele la methapo ea pelo, le hlahella hamorao bophelong 'me ha le na phekolo kapa phekolo. Maemong a kang ana, batho ba bang ba hlahlojoa pele.
Maemong a mang, u ka 'na ua ba le "liphatsa tsa lefutso tsa kankere," joaloka BRCA1 le BRCA2. Ho tseba hore o na le liphatsa tsa lefutso tsena ho ka u thusa hore u etse liqeto tsa bohlokoa ka bophelo bo botle ba hau. Leha ho le joalo, ke khetho ea hau, 'me haeba u phela hantle kapa u se na boitsebiso.
> Mehloli:
> Chard, R., le M. Norton. Keletso ea mafu bakeng sa bakuli ho hlahloba ho hlahloba le ho hlahloba likotsi tsa Chromosomal. Tlhahlobo ea Clinical Laboratory . 2016. 36 (2): 227-36.
> Fonda Allen, J., Stoll, K., le B. Bernhardt. Keletso ea pele ea tlhahlobo ea tlhaho ea Chromosomal le ea Mendelian. Seminare ka Perinatology . 2016. 49 (1): 44-55.