Tlhahlobo ea liphatsa tsa lefutso butle-butle e fetoha thuto e ratoang Ka thuso ea mofuta ona oa lipatlisiso tsa laboratori, lingaka li ke ke tsa theha tekanyo ea botsoalle, empa e boetse e theha setšoantšo sa lefu le itseng. A re hlahlobeng ka ho hlaka tlhahlobo, re tla bua ka mefuta ea eona le likarolo tsa ho phethahala.
Mekhoa ea liphatsa tsa lefutso
Ho hlahlojoa ha liphatsa tsa lefutso - setsi se seholo sa lithuto tsa laboratori, liteko, litekanyetso le lipalo. Morero o ka sehloohong oa mehato e joalo ke ho fumana litšobotsi tsa lefutso, ho ithuta thepa ea liphatsa tsa lefutso. Ho itšetlehile ka sepheo sa sena kapa tlhahlobo eo, mefuta e latelang ea lipatlisiso e khetholloa ka liphatsa tsa lefutso tsa bongaka:
- tlhahlobo ea DNA sebopeho;
- tlhahlobo ea chromosome;
- ho ikamahanya le liphatsa tsa lefutso;
- ho etsa lipatlisiso ka hore na ho na le mafu afe.
Tlhahlobo ea DNA
Ho etsa lipatlisiso tse kang DNA ho hlahloba bana ho thusa ho theha motsoali oa likokoana-hloko tsa ngoana ka palo e kholo. Bakeng sa boitšoaro ba hae, boitsebiso bo nkiloe ho 'mè, lesea le ho thoe ntate. E le ntho e etsang lipatlisiso e ka sebetsana le mathe, mali. Hangata ho hlajoa sekhahla (ho nka boitsebiso bo tsoang ka hare ho lerama).
Ka thuso ea mochine o khethehileng, ha lihlahisoa tsa liphatsa tsa lefutso li etsoa, likaroloana tse ling tsa molek'hule ea DNA tse nang le boitsebiso ba liphatsa tsa lefutso - loci li senoloa. Tlas'a keketseho e 'maloa, lab e hlahloba litekanyetso tse 3 ka nako e le' ngoe. Qalong, liphatsa tsa lefutso tseo ngoana a li futsitseng ho 'mè oa hae li khetholloa,' me lihlahisoa tse setseng li bapisoa le tse ling tsa lithaka tse boleloang ke ntate. Ka ho toba, tlhahlobo ea liphatsa tsa lefutso e etsoa bakeng sa bo-ntate.
Tlhahlobo ea Chromosomal
Ho hlahlojoa ha lefu la chromosomal ho thusa ho theha boteng ba maloetse a ka hlahang ho lesea le e-s'o tsoaloe. Bakeng sa ho etsa sena, lingaka li sebelisa ho hlahlojoa ha bakhachane pele ho nako. E akarelletsa sampuli ea mali bakeng sa patlisiso le ultrasound. Tlhaloso ea liphetho e etsoa ke ngaka feela. Ka nako e ts'oanang, ho hlahloba ka ho hlaka ha ho etsoa ka lebaka la tlhahlobo e le 'ngoe. Liphello tse mpe ke pontšo ea liteko tse ling. Phapang pakeng tsa litekanyetso tsa mekhoa e ka 'na ea e-ba pontšo ea ho ba teng ha lintho tse sa tloaelehang tse kang chromosomal:
- Down syndrome ;
- trisomy 13 le li-chromosome tse 18;
- Lefu la Turner;
- Klinefelter's syndrome.
Litlhahlobo tsa mafu nakong ea bokhachane
Liphuputso tsa ho lumellana ha liphatsa tsa lefutso li fana ka monyetla oa ho emola ngoana ho molekane e mong. Ha e le hantle, hangata ho bonahala hore banyalani ba bangata ha ba na bana ka nako e telele. Ha ho buuoa ka lingaka, har'a lipatlisiso tse tlamehang - tlhahlobo ea liphatsa tsa lefutso. E etsoa maemong a litsing tsa bophelo bo botle le litsing tsa thero ea malapa.
Lisele tsa 'mele oa motho li na le protheine e khethehileng HLA - motho ea leukocyte antigen. Ho ne ho khoneha ho theha mefuta e fetang 800 ea protheine ena. Mosebetsi oa oona 'meleng ke tlhokomelo e nakong ea likokoana-hloko, likokoana-hloko. Ha mohloli oa mojaki o fumanoa, o romela motlakase tsamaiso ea 'mele, e qalang ho hlahisa li-immunoglobulin. Haeba tsamaiso e se e sebetsang hantle, mokhoa ona o boetse o hlaha ha lesea le emoloa, le lebisang ho ntša mpa ka nako e le 'ngoe.
E le hore ho khetholle tsoelo-pele ea boemo bona, lingaka li khothalletsa ho fetisa liphatsa tsa lefutso hore li lumellane. Ha e khannoa, mekhahlelo ea liprotheine ea balekane e hlahlojoa, ho tšoana ha bona ho bapisoa. Ke habohlokoa hore re hlokomele hore ho se lumellane ha e le hantle ho sitisa ho ima. Kamora 'pelehi, mosali o laoloa, o etsa hore a khaotse ho ima, ha a imme sepetlele.
Tlhahlobo ea mafu nakong ea bokhachane
Thuto e joalo e le tlhahlobo ea liphatsa tsa lefutso e etsa hore ho khonehe ho hlahloba mafu a chromosomal mathateng a pele a ho hōla ha ngoana ka pōpelong ea 'm'ae. Thuto e joalo hangata e bitsoa ho hlahloba. Sebopeho sa eona ha se akarelletse feela tlhahlobo ea liphatsa tsa lefutso tsa lesea, empa hape ha e na tlhahlobo ea lesea le tlang ka thuso ea ultrasound. Kahoo lingaka li ka tseba liketso tse sa lumellaneng le bophelo, liketso tse mpe. Thuto e tšoanang e ikemiselitse ho felisa mefuta e sa tloaelehang ea liphatsa tsa lefutso, e thusa ho theha menyetla ea nts'etsopele, ka ho lekanya hore maqhubu a mali a metsoako e kang:
- HCG ;
- AFP ;
- APP-A.
Hangata lits'oao tse kang tsena li sebelisa, e le li-marker - haeba litekanyetso tsa bona li sa finyelle litekanyetso tse thehiloeng, lingaka li fana ka tlhahlobo e 'ngoe hape. Ka hona, mekhoa e ts'oanang e sebelisoa. Tšebeliso ea bona e amana le kotsi ea mathata a bokhachane. Ka lebaka la sena, ho khethoa ho etsoa ka linako tse sa tloaelehang. Mefuta ena ea litlhahlobo e kenyelletsa:
- phetoho ea likhetho - ho hlahloba likaroloana tse nyenyane tsa li-envelopes tsa ka ntle tsa embryo;
- tšoaetso ea mali ho tloha mokokotlong;
- tlhahlobo ea amniotic fluid.
Tlhahlobo ea liphatsa tsa lefutso bakeng sa ho itšireletsa mafung
Ho hlahlojoa ha mafu a liphatsa tsa lefutso ho thusa ho hlahloba ka tekanyo e phahameng ea ho nepahala likotsi tsa ho hlaolela boloetse ho lesea le hlahileng. Boitsebiso bo nkoa sepetlele, ka letsatsi la bone, haeba lesea le hlahile ka nako, le beke hamorao ho masea a sa tsoa hlaha. Sampuli ea mali e etsoa serethe. Marotholi a mang a mangata a sebelisoa ka potlako mofuteng o khethehileng oa teko, ebe o romeloa laboratoring. Boemong bona ba liphatsa tsa lefutso, lingaka li theha tloaelo ea ho ba le mafu a joalo (tlhahlobo e feletseng ea liphatsa tsa lefutso):
- Cystic fibrosis. Mafu a lefutso, moo mosebetsi oa ho phefumoloha le oa ho senya lijo o senyehileng.
- Phenylketonuria. Ka boloetse bo joalo, mehaho ea boko e fetoloa liphetoho - mafu a kelello a nts'ets'ele pele, ts'oaetso ea kelello e thehoa.
- Congenital hypothyroidism. Lefu lena le hlaha ka lebaka la ho haelloa ke lihomone tsa qoqotho. Ts'ebetso ena e thibela tsoelo-pele ea 'meleng le ea kelello ea lesea. Hormonotherapy ke eona feela tsela ea ho e phekola.
- Galactosemia. Ho hlekefetsoa ha litho tsa litho tsa ka hare (sebete, tsamaiso ea methapo). Ngoana o qobelloa ho boloka lijo tse se nang lebese, a e-na le phekolo e khethehileng.
- Matšoao a Adrenogenital. E thehiloe ka ho eketseha kapele ea androgens.
Ho hlahloba liphatsa tsa lefutso tsa oncology
Nakong ea lipatlisiso tse ngata tsa mofuta oa ts'ebetsong ea tlhaho, bo-rasaense ba ile ba khona ho theha kamano ea lefu lena le lefutso. Ho na le seo ho thoeng ke liphatsa tsa lefutso ho mafu a sa tloaelehang - ho ba teng ka lehlakoreng le leng la baholo-holo ba neng ba ka hlaseloa ke ts'oaetso, haholo ho eketsa kotsi ea tsoelo-pele ea oncology ho bana. Ka mohlala, liphatsa tsa lefutso li entse qeto ea hore liphatsa tsa BRCA1 le BRCA2 li ikarabella bakeng sa ntshetsopele ea kankere ea matsoele ka 50% ea linyeoe. Liphatsa tsa lefutso tsa kankere li bakoa ke phetoho ea liphatsa tsena tsa lefutso.
Tlhahlobo ea liphatsa tsa botenya
Ka lilemo tse mashome a mangata, litsebi tsa phepo e nepahetseng li entse lipatlisiso tse ngata, li leka ho fumana sesosa sa boima bo feteletseng. Ka lebaka leo, ho fumanoe hore, ho phaella ho khaello ea phepo e nepahetseng, ho ja lijo tse sa leka-lekaneng, ho boetse ho na le liphatsa tsa lefutso tse holimo ho botenya. Kahoo ho tloha bongoaneng, hoa khoneha ho latellana kamano pakeng tsa index ea 'mele oa' mele le setšoantšo sa boima ba boima ba 'mele. Tlhōrō ke nakong ea liphetoho tsa li-hormone 'meleng - nako ea ho kena lilemong tsa bokhachane, bokhachane le ho anyesa, ho ikhula khoeli.
Har'a liphatsa tsa lefutso tse ikarabellang boleng ba boima, liphatsa tsa lefutso li bitsoa:
- FTO - boikarabello ba boima ba 'mele;
- HMGI-C - e thusa ho hōla ha lisele tse mafura;
- NRXN3 - e ama sebōpeho sa boikutlo ba ho khotsofatsa;
- FIT1 le FIT2 - li susumelletsa ho thehoa ha adipocyte - lisele tseo ho tsona ho hlahang mafura a mafura.
Ha u hlahloba boemo ba litho tsa lits'ebeletso le mekhoa ea tsamaiso, ho etsa qeto ea hore na ho na le lintho tse kae tse holimo ho feta botenya, tlhahlobo ea lefutso ea mali e etsoa ho fumana hore na ho na le lintho tse kae tse kang:
- leptin - e laola mekhoa ea ts'ebetso ea 'mele' meleng, ho eketsa litšenyehelo tsa matla;
- T4 mahala, li-hormone tsa TSH - thyroid;
- hemoglobin e nang le glycated, glucose - e hlalosa boemo ba metabolism ea lik'habohaedreite.
Ho hlahlojoa ka liphatsa tsa lefutso tsa thrombophilia
Ntho e eketsehileng ea ho hlahisa mali, thrombi, e ikemiselitse ho ea boemong ba ho futhumatsa. Liphatsa tsa lefutso tsa tlhaho ea lefuba li tsejoa ha ho fetoha phetoho e teng lefapheng la lefutso, le nang le boikarabelo ba ho thibela mali - F5. Sena se etsa hore ho be le keketseho ea tekanyo ea ho thehoa ha metsoako, e leng ho matlafatsa ts'ebetso ea mali ea ho koala mali. Phetoho ea motsoako oa prothrombin (F2) e eketsa ho qaptjoa ha ntlha ena ka mokhoa oa coagulation. Ka pel'a liphetoho tse joalo, kotsi ea thrombosis e eketseha hangata.
Ho hlahlojoa ha liphatsa tsa lefutso bakeng sa lactase ha ho na thuso
Ho se mamellane ha Lactose ke tlōlo ea molao, e etsang hore 'mele o se ke oa khona ho fumana tsoekere ea lebese, ka lebaka la ho fokotseha ha masea a entsoeng ka motsoako oa lazyase. Hangata, e le hore ho thehoe lefu lena le sekheo sa lona, ho hlahlojoa liphatsa tsa lefutso ho fumana liphatsa tsa lefutso C / T-13910 le C / T-22018. Ba ikarabella ka kotloloho bakeng sa ho theola ha matla a li-enzyme. Ho hlahloba sebopeho sa bona ho thusa ka ho theha ts'ebetsong ea ho ba le tšenyo ho bana, ba jereng liphatsa tsa lefutso tsena. Ho khetholloa ha liphatsa tsa lefutso ho etsoa ke litsebi.
Tlhahlobo ea mafu bakeng sa Gilbert's syndrome
Gilbert syndrome - lefu la sebete la congenital, le bolelang ho kula ha benign. Hangata e na le setho sa lelapa, se fetela ho batsoali ho ea ho bana. E tsamaea le keketseho ea boemo ba bilirubin. Lebaka le itšetlehile ka ho tlōla ha sebōpeho sa enzyme glucuronyltransferase e nang le lisele tsa sebete 'me e kenya letsoho ho tlama li-bilirubin mahala. Tlhahlobo ea mali ea lefutso e thusa ho theha patholose ka ho hlahloba liphatsa tsa lefutso tsa UGT1 le kopi ea eona.
Liphatsa tsa tlhaho tsa botona le bothata ba ho noa joala
Lingaka tse ithutang bothata li khanna lithuto tse telele, li leka ho theha maqhama pakeng tsa litakatso tsa joala le liphatsa tsa lefutso. Leha ho le joalo, lefutso la mofuta ona ha lea thehoa. Ho na le likhopolo-taba tse ngata, empa ha ba na bopaki ba konkreiti. Hangata lingaka li bua ka lefu lena e le boloetse bo fumanoeng, phello ea khetho ea boikemelo. Sena se tiisoa ke batho ba atlehileng, ba atlehileng bao batsoali ba bona ba nang le bothata ba joala.
Passport ea liphatsa tsa lefutso
Litliniki tse ngata tsa bophelo bo botle lipakeng tsa litšebeletso tse fanoeng li ka bonoa lethathamong le kang pontšo e feletseng ea bophelo bo botle ba lefutso. E amana le liphatsa tsa lefutso tse feletseng tsa 'mele, o ikemiselitseng ho theha sebaka se itseng sa mafu a itseng. Ho phaella moo, tlhahlobo ea liphatsa tsa lefutso tsa hotele e thusa ho khetholla mokhoa o itseng oa ts'ebetso, ho theha litalenta tse patiloeng.