Uhlalutyo lwe-Genetic lube yinto efundwayo. Ngoncedo lwale hlobo lophando lwebhubhoratri, oogqirha abanako ukuseka kuphela umlinganiselo wobudlelwane, kodwa kunye nokuxhomekeka kwesifo esithile. Makhe siqwalasele ngokucacileyo uhlalutyo, siza kuxela ngeentlobo kunye nempawu zayo zokwenza.
Izindlela zokuhlalutya i-genetic
Ukuhlolwa kwe-Genetic - isethi enkulu yee-laboratory izifundo, iimvavanyo, ukujonga kunye nokubala. Injongo ephambili yale nyathelo kukuqinisekisa iimpawu zokuzalwa, ufunde iipropati zezakhi zofuzo. Ngokuxhomekeke kwinjongo yale nto okanye ukuhlalutya, le iindidi zeemviwo zichazwe kwi-genetics yezokwelapha:
- Uhlalutyo lwesakhiwo seDNA;
- uhlalutyo lwechromosome;
- uhlalutyo lwezobugcisa;
- uphando malunga nokuchazwa kwezifo.
Uhlalutyo lweDNA
Ukuqhuba uhlolisiso olunjenge-DNA uhlalutyo lwabazali lubancedisa ukuseka umzali we-biological womntwana ngepesenti enkulu. Ngenxa yokuziphatha kwakhe, izinto eziphathekayo zithathwe kumama, umntwana kunye noyise osolwayo. Njengento yophando ingenza isalathisi, igazi. Ngokuqhelekileyo ukutshitshiswa kwe-buccal kuqhutyelwa (ukuthabatha izinto ezivela ngaphakathi kwidama).
Ngoncedo lwesicatshulwa esikhethekileyo, xa uhlalutyo lofuzo luqhutyelwa, iinqununu ezithile kwi-molecule ye-DNA ephethe ulwazi lwe-genetic - i-loci iyakutyhilwa. Ngaphantsi kwenyuka, i-lab ihlola iesampuli ezingama-3 kanye kanye. Ekuqaleni, izinto eziphathekayo ezifunyanwa ngumntwana ezivela kumama ziyaqalwa, kwaye izicwangciso ezisele zithelekiswa nazo zisesampula kweso sityholo. Ngokuchanekileyo, uhlalutyo lwezofuzo luqhutyelwa ukuzala.
Uhlalutyo lwe-Chromosomal
Uhlalutyo lwe-chromosomal pathology lunceda ukusekwa kwezifo ezinokwenzeka kwiintsana ezingakazalwa. Ukwenza oku, oogqirha basebenzise ukuhlolwa kokubeleka. Iquka uphando lwegazi lophando kunye ne-ultrasound. Ukuchazwa kweziphumo kwenziwa kuphela ngugqirha. Ngelo xesha, ukuxilongwa okucacileyo akukwenziwe kwisiseko sokuhlola. Iziphumo ezimbi zibonakalisa iimviwo ezingaphezulu. Ukwahlukana phakathi kweempawu zeemimiselo kungabonakalisa ukuba khona kwezinto ezinjalo ezingaqhelekanga njenge-chromosomal:
- Down syndrome ;
- i-trisomy 13 ne-18 i-chromosomes;
- I-Turner syndrome;
- Isifo sikaKlinefelter.
Iimvavanyo ze-Genetic ekucwangciseni ukukhulelwa
Uhlalutyo lokuhambelana kwemvelo lubeka ithuba lokukhulelwa umntwana kumlingane othile. Ngokwenza oko, kudla ngokuphindaphindiweyo ukuba abaninzi abatshatileyo abanako ukufumana abantwana ixesha elide. Ekubhekiseni koogqirha, phakathi kophando olufunekayo - uhlalutyo malunga nokuhambisana kwemfuza. Kuqhutyelwa kwiimeko zeekliniki ezinkulu kunye namaziko okucwangcisa iintsapho.
Iiseli zomzimba womntu zineprotheni ethile HLA - i-leukocyte antigen yabantu. Kwakunokwenzeka ukuseka iintlobo ezingaphezu kwe-800 zeli protheyini. Umsebenzi walo emzimbeni kukuqaphela ngokufanelekileyo ngexesha leentsholongwane, ii-pathogens. Xa kufunyanwe isalathisi, bathumela umqondiso kwi-immune system, eqala ukuveliswa kwe-immunoglobulins. Ukuba le nkqubo ingasebenzi kakuhle, le mpendulo iyabonakala kwi-embryo iifom, ezikhokelela ekukhipheleleni isisu.
Ukuze ungabandakanyi ukuphuhliswa kweli meko, oogqirha bancomela ukudlulisa ukuhlalutya kofuzo ngokuhambelana. Xa kuqhutyelwa, izakhiwo zeeprotheyini zamaqabane zivavanywa, ukufana kwazo kufaniswa. Kubalulekile ukuphawula ukuba ukungahambelani akuyiyo inqobo yokukhulelwa. Emva kokukhulelwa, umfazi uthathwa ngokulawula, enza iprophylaxis yokuphazamiseka kwesisu, xa ekhulelwe esibhedlele.
Uhlalutyo lwe-Genetic ngexesha lokukhulelwa
Uphononongo olunjalo njengoluhlalutyo lomzimba lwe-fetus lwenza kube lula ukuxilonga i-chromosomal pathologies kwizigaba zokuqala zophuhliso lomntwana ngaphakathi kwesibeleko sikamama. Isifundo esinjalo sisoloko sibizwa ngokuba yi-screening. Ukubunjwa kwalo akubandakanyi nje uhlalutyo lwezinto eziphathekayo zomntwana, kodwa kunye nokuhlolwa kwengane ezayo ngoncedo lwe-ultrasound. Ngoko oogqirha banokubona ukuphulwa okungahambelani nobomi, izibi. Isifundo esifanayo sijolise ekupheliseni ukungalingani kwemvelo, kunceda ukuseka amathuba okuphuhliswa, ngokuqikelela ukuxininisa kwigazi leemveliso ezifana:
- HCG ;
- AFP ;
- APP-A.
Iimpawu ezinjalo oogqirha basebenzisa oogqirha, njengabamakishi - ukuba iimilinganiselo zabo azihambelani nemilinganiselo emiselweyo, oogqirha banquma ukuba bafumane olunye uphando. Ngaloo ndlela, iindlela zokusasaza zisetyenziswa. Ukusetyenziswa kwabo kuhambelana nomngcipheko weengxaki zokukhulelwa. Ngenxa yoko, ukuqeshwa kwenziwa kwiimeko ezinqabileyo. Ezi ntlobo zokuhlalutya ziquka:
- i-biopsy yohlalutyo lwe-chorion ye-particle tissue ze-envelopes zangaphandle ze-embryo;
- isampuli yegazi ukusuka kwintambo yomlomo;
- hlalutyo lwe-amniotic fluid.
Uhlalutyo lwe-Genetic lokufumana izifo
Uhlalutyo lwezifo ze-genetic lunceda ukuvavanya ngezinga elichanekileyo lokuchaneka ingozi yokuphuhlisa i-pathology ekuzalweni komntwana. Izinto eziphathekayo zithathwa esibhedlele, ngomhla we-4, ukuba umntwana ubonakale ngexesha, kunye neveki kamva kwiintsana ezingaphambi kwexesha. Isampululelo segazi senziwa kwisithende. Amathambo amaninzi athatyathwa ngokukhawuleza kumgca wovavanyo olukhethekileyo, aze athunyelwe kwi-laboratory. Kulo hlalutyo lofuzo, oogqirha basungula ukuthambekela kwezifo ezifana nokuhlalutya ngokupheleleyo:
- Cystic fibrosis. Izifo zendalo, apho umsebenzi weendlela zokuphefumula kunye nokugaya ukutya kuphazamiseka.
- Phenylketonuria. Ngenxa yesifo esinjalo, izakhi zengqondo zenza utshintsho-iingxaki zeengqondo zakha, ukuhlaziywa kwengqondo kwakha.
- I-hypothyroidism yamaqabane. Esi sifo sikhula ngenxa yokungakwazi ukuzalwa kwe-hormone ye-thyroid. Le nkqubo inqanda ukukhula kwengqondo kunye nengqondo yengane. IHormonotherapy yindlela kuphela yokuyiphatha.
- Galactosemia. Ukuphulwa komsebenzi wezitho zangaphakathi (isibindi, inkqubo yesantya). Umntwana uphoqeleka ukuba agcine ukutya okungekho ngobisi, ufumane unyango olukhethekileyo.
- I-Adrenogenital syndrome. Yenziwe ngokukhula kwe-androgens.
Uhlalutyo lwe-genetic lwe-oncology
Kwinkqubo yezifundo ezininzi zobume benkqubo ye-oncological, izazinzulu ziye zakwazi ukuseka ubudlelwane besifo kunye nelifa. Kukho okubizwa ngokuba yi-genetic predisposition to diseases of the ecology - ubukho kwizityalo zeenkozi ezibangelwa ukuphazamiseka, okwandisa kakhulu umngcipheko wokuphuhlisa i-oncology kwinzala. Ngokomzekelo, ii-geneticists ziye zazimisela ukuba i-BRCA1 ne-BRCA2 zegesi zijongene nophuhliso lomhlaza wesibeleko kwi-50% yamatyala. I-Genetic predisposition to cancer ibangelwa ukuguqulwa kwezi ntlobu.
Uhlalutyo lwe-Genetic lokunyanyisa
Kwiminyaka emininzi, izondlo ziye zaqhuba izifundo ezininzi, zizama ukubeka imbangela yobunzima obunzima. Ngenxa yoko, kwafunyaniswa ukuba, ngaphezu kwendlela yokungondleki, ukutya okunokulinganisela, kukho imfuyo yokuxhalaba. Ngoko ukususela kumncinci, kunokwenzeka ukulandelela ubudlelwane obuphakathi kwesicatshulwa somzimba kunye nenjongo yokufumana ubunzima. Ingqungquthela ngexesha lokutshintsha kwama-hormone emzimbeni - ixesha lokutshatyalaliswa, ukukhulelwa kunye nokuncelisa, ukuphuma kwesikhashana.
Phakathi kweengcambu ezijongene nokufumana ubunzima, i-genetics ibizwa ngokuba:
- FTO - uxanduva lobunzima;
- I-HMGI-C-isebenza ukukhula kweeseli ezinamafutha;
- I-NRXN3 - ithintela ukwakheka komvakalelo we-saturation;
- I-FIT1 ne-FIT2 - ivuselela ukubunjwa kwe-adipocytes - iiseli apho iisunja ezinamafutha zenziwe khona.
Xa uvavanya imeko yezitho kunye neenkqubo, ukucacisa ukuxhomekeka kokunyamezela, uhlalutyo lofuzo lwegazi lwenziwa ukuze kuqinisekiswe ukuxinwa kwezinto ezifana nale:
- i-leptin - ilawula iinkqubo zokuxilonga emzimbeni, ukwandisa inkcitho yamandla;
- I-T4 ikhululekile, i-TSH - i-hormone ye-thyroid;
- i hemoglobin, i-glucose - ibonisa isimo se-carbohydrates metabolism.
Iimviwo ze-genetic thrombophilia
Ukwanda okwenyukayo ukwakha i-clots yegazi, i-thrombi, inqunywe kwinqanaba lokuzalwa. I-genetic predisposition to thrombophilia iphawulwe xa ukuguquka kwentsholongwane kuvela kwi-gene, ejongene ne-blood clotting factor-F5. Oku kubangela ukwanda kwinqanaba lokubunjwa kwe-thrombin, okuphucula iinkqubo ze-clotting blood. Ukuguqulwa kwimizimba ye-prothrombin (F2) kwandisa ukuhlanganiswa kwesi sizathu kwinkqubo ye-coagulation. Ngaphambi kokuguquka okunjalo, umngcipheko we-thrombosis ukwandisa amaxesha amaninzi.
Uviwo lwe-Genetic lwe-lactase insufficiency
Ukunganyamezelani kwaLactose kukuphulaphula, okulungisa ukungazi umzimba ukuba ubambe ubisi ushukela, ngenxa yokunciphisa isisu se-enzyme lactase. Ngokuqhelekileyo, ukuze kusungulwe eso sifo kunye nesimo saso, uhlalutyo lofuzo lwenziwa ukwenzela ukuchonga i-gene C / T-13910 kunye neC / T-22018. Bajongene ngqo ne-low synthesis of enzymes. Ukuphononongwa kweso sakhiwo kunceda ekusekeni ukuphuhliswa kokukhubazeka kwimbewu, abaphathi beejeni. Ukuqulunqwa kohlalutyo lwezofuzo kuqhutywa ngcali.
Uviwo lwe-Genetic lwe-Gilbert's syndrome
I-Gilbert syndrome - i-hepatic pathology yokuzalwa, ebhekisela kwiingxaki ezinobungozi. Ngokuqhelekileyo uvelisa umlingani wentsapho, udlulela kubazali kubantwana. Kuhamba kunye nokwanda kwinqanaba le-bilirubin. Isizathu sichaphazela ukuphulwa kwe-enzyme glucuronyltransferase equlethwe kwiintsholongwane zesibindi kwaye ithatha inxaxheba ekubophelelweni kwe-bilirubin yamahhala. Uvavanyo lwegazi lofuzo luza kunceda ukubeka i-pathology ngokuvavanya i-GT1 gene kunye nekopi yayo.
I-Genetic predisposition to alcoholism
Oogqirha befunda ingxaki baqhuba izifundo ezide, bazame ukuseka unxibelelwano phakathi kokufunwa kotywala kunye nemfuza. Nangona kunjalo, i-genetic predisposition to isifo esinjalo ayisiswanga. Kukho iingcinga ezininzi, kodwa abanakho ukuqinisekiswa kwekhonkrithi. Oogqirha ngokwabo bahlala bethetha ngesifo njengesifo esiphefumlelweyo, ngenxa yokuzikhethela okuzimeleyo. Oku kuqinisekiswa ngabantu abaphumeleleyo, abaphumelelayo abazali babo abanokuxhatshazwa kotywala.
Iipasipoti zeGenesis
Ukwandisa kwiikliniki zempilo phakathi kweenkonzo ezibonelelweyo kubonakala kwoluhlu olufana neepaspoti zezempilo ezipheleleyo. Iquka uhlalutyo olupheleleyo lomzimba, olujolise ekumiseni iimeko ezithile kwiqela elithile lezifo. Ukongezelela, uvavanyo lwamajethi ehotele luyakunceda ukuchonga ubungqina bentlobo ethile yomsebenzi, ukuseka iitalente ezifihliweyo.