Ukuhlaziywa kwe-Genetic - yini ongayifunda ngakho nokuthi ungayenza kanjani?

Ukuhlaziywa kwezakhi zofuzo kancane kancane kuba isifundo esithandwayo. Ngosizo lwalolu hlobo locwaningo lwama-laboratory, odokotela bangakwazi ukusungula izinga lokuhlolisana kuphela, kodwa futhi ukubeka isifo esithile. Ake sicabangele ngokuningiliziwe ukuhlaziywa, sizobe sitshele ngezinhlobo zayo nezici zokwenza.

Izindlela zokuhlaziywa kwezakhi zofuzo

Ukuhlolwa kwe-Genetic - isethi enkulu yezifundo ze-laboratory, ukuhlolwa, ukubuka nokubala. Inhloso eyinhloko yezinyathelo ezinjalo ukucacisa izici zokufa, ukutadisha izakhiwo zezakhi zofuzo. Kuye ngenhloso yalokhu noma lokho kuhlaziywa, lezi zinhlobo zokuhlolwa ezilandelayo zihlukaniswa ku-genetics yezokwelapha:

• ukuhlaziywa kwesakhiwo se-DNA;
• ukuhlaziywa kwe-chromosome;
• ukuhlaziywa kwezakhi zofuzo;
• ucwaninga ngokulandelana kwezifo.

Ukuhlaziywa kwe-DNA

Ukuqhuba isifundo esinjengokuhlaziywa kwe-DNA yokubambisana kuyasiza ekusekeni umzali ophilayo wengane ngephesenti enkulu. Ngenxa yokuziphatha kwakhe, le ndaba ithathwe kumama, umntwana kanye nobaba osolwayo. Njengento yokucwaninga ingenza isenze, igazi. Ngokuvamile ukukhipha ibhakede kwenziwa (ukukhipha izinto ezivela ngaphakathi ngaphakathi kwesigonda).

Ngosizo lwedivaysi ekhethekile, lapho kuhlaziywa izakhi zofuzo, izingxenyana ezithile ze-molecule ye-DNA ezithwala ulwazi lwezofuzo - i-loci yembula. Ngaphansi kokwandisa okuningi, ibhubhu ihlola amasampuli amathathu ngesikhathi esisodwa. Okokuqala, izinto eziphathelene nezofuzo ezitholwa ngumama ezivela kumama zikhethiwe, ngakho-ke iziqephu ezisele ziqhathaniswa nalabo abasesampula kobaba osolwayo. Ngokuqondile, ukuhlaziywa kwezakhi zofuzo kuqhutshwa ngokubambisana.

Ukuhlaziywa kwe-Chromosomal

Ukuhlaziywa kwe-chromosomal pathology kusiza ukubeka ukutholakala kwezifo ezingenzeka enganeni engakazalwa. Ukuze wenze lokhu, odokotela basebenzisa ukuhlolwa kokubeletha ngaphambi kokubeletha. Kubandakanya isampuli segazi locwaningo kanye ne-ultrasound. Ukuchazwa kwemiphumela kwenziwa kuphela udokotela. Ngesikhathi esifanayo, ukuxilongwa okucacile akukwenziwa ngesisekelo sokuhlola okulodwa. Imiphumela emibi yinkomba yokuhlolwa okuqhubekayo. Ukungafani phakathi kwamagugu ezinkambiso kungase kube isibonakaliso sokuba khona kwezinto ezinjalo ze-chromosomal njenge:

• I-Down syndrome ;
• i-trisomy 13 nama-chromosomes angu-18;
• I-Turner syndrome;
• I-Klinefelter's syndrome.

Izivivinyo zama-genetic ekukhuleni kokukhulelwa

Ukuhlaziywa kokuhambisana kwezakhi zofuzo kubeka ithuba lokukhulelwa ingane kumlingani othile. Ngokwenza njalo, kuvele ukuthi imibhangqwana eminingi eshadile ayikwazi ukuba nezingane isikhathi eside. Ekubhekiseni odokotela, phakathi kokucwaninga okuphoqelekile - ukuhlaziywa kokuhambisana kofuzo. Kuqhutshwa ezimweni zemitholampilo emikhulu nasezindaweni zokuhlela umndeni.

Amaseli omzimba womuntu anesiphrotheni ethize HLA - i-human leukocyte antigen. Kwakungenzeka ukuthi kutholakale izinhlobo ezingaphezu kuka-800 zale phrotheni. Umsebenzi wayo emzimbeni ukuqashelwa okusheshayo kwamagciwane, amagciwane. Lapho kutholakala isakhiwo esinqumayo, bathumela isimpawu kumzimba wokuzivikela omzimba, oqala ukukhiqizwa kwama-immunoglobulins. Uma uhlelo lungasebenzi kahle, lokhu kusabela kwenzeka nakwimbungu eyakhayo, eholela ekukhipha isisu okuzenzekelayo.

Ukuze akhiphe ukuthuthukiswa kwalesi simo, odokotela batusa ukudlulisa ukuhlaziywa kofuzo ngokuhambisana. Uma kuqhutshwa, izakhiwo zamaphrotheni zabalingani zihlolwa, ukufana kwazo kuqhathaniswa. Kubalulekile ukuphawula ukuthi ukungahambisani neze empeleni kuyisithiyo ekukhulelweni. Ngemuva kokukhulelwa, owesifazane uthathwa isilawuli, enza i-prophylaxis yokuphazamiseka kokubeletha, lapho ekhulelwe esibhedlela.

Ukuhlaziywa kwe-Genetic ngesikhathi sokukhulelwa

Ucwaningo olufana nokuhlaziywa kwezakhi zofuzo kwenza kube lula ukuxilonga i-chromosomal pathologies ezinyathelweni zakuqala zokuthuthukiswa kwengane ngaphakathi kwesibeletho sikamama. Ucwaningo olunjalo luvame ukubizwa ngokuthi ukuhlolwa. Ukubunjwa kwalo akubandakanyi ukuhlaziywa kwengane yomzimba, kodwa futhi kuhlolisisa umntwana ozayo ngokusiza i-ultrasound. Ngakho odokotela bakwazi ukubona ukwephulwa okungahambisani nokuphila, amacebo. Ucwaningo olufanayo luhlose ukuqeda ukungahleleki kwezakhi zofuzo, kusiza ukubeka amathuba okuthuthukiswa, ngokulinganisa ukuhlushwa egazini lamakhemikhali afana nalokhu:

• I-HCG ;
• I-AFP ;
• APP-A.

Ngokuvamile izinkomba ezinjalo odokotela zisebenzisa, njengabaphawu - uma izindinganiso zabo zingahlangabezani nezindinganiso ezisungulwe, odokotela banquma ukuhlolwa okunye. Ngakho-ke, izindlela ezisetshenzisiwe zisetshenziswa. Ukusetshenziswa kwabo kuhlotshaniswa nengozi yezinkinga zokukhulelwa. Ngenxa yalokhu, ukuqokwa kuqhutshwa ezimweni ezingavamile. Lezi zinhlobo zokuhlaziya zihlanganisa:

• i-biopsy ye-chorion - ukuhlaziywa kwezinhlayiyana zezicubu ze-envelope zangaphandle ze-embryo;
• isampula yegazi emthonjeni womlomo;
• ukuhlaziywa kwe-amniotic fluid.

Ukuhlaziywa kwezakhi zofuzo zokuthola izifo

Ukuhlaziywa kwezifo zofuzo kusiza ukuhlola ngezinga eliphakeme lokunemba izingozi zokuthuthukisa i-pathology emntwaneni ozelwe. Lezi zinto zithathwa esibhedlela, ngosuku lwesine, uma umntwana evele ngesikhathi, futhi ngesonto ngemuva kwezinsana ezingakafiki. Isampula segazi senziwa esithendeni. Amaconsi amaningana ayo asetshenziselwa ngokushesha emgqeni wokuhlola okhethekile, bese athunyelwa ebhokisatri. Kuloluhlalutyo lwezofuzo, odokotela basungula ukuthambekela kwezifo ezinjengokuthi (ukuhlaziywa okuphelele kwezakhi zofuzo):

1. I-cystic fibrosis. Izifo zendalo, lapho umsebenzi wezinhlelo zokuphefumula nokugaya umzimba kuphazanyiswa.
2. Phenylketonuria. Njengoba isifo esinjalo, izinhlaka zobuchopho zenza izinguquko - izifo eziphathelene negazi ziyakhula, kudala ukuphuza kwengqondo.
3. I-hypothyroidism ekhulile. Lesi sifo sivela ngenxa yokuntuleka kokuzalwa kwamahomoni wegciwane. Le nqubo ivimbela ukuthuthukiswa ngokomzimba nangokwengqondo kwengane. I-hormonotherapy yindlela kuphela yokuyiphatha.
4. Galactosemia. Ukuphulwa komsebenzi wezitho zangaphakathi (isibindi, isimiso sezinzwa). Umntanakho uphoqeleka ukugcina ukudla okungekho mkisi, athole ukwelashwa okukhethekile.
5. I-Adrenogenital syndrome. Yakhiwe nge-augmentation synthesis ye-androgens.

Ukuhlaziywa kwama-genetic of oncology

Esikhathini sezifundo eziningi mayelana nenqubo yezinhlelo eziphilayo, ososayensi bakwazi ukuveza ubudlelwane besifo nalesi sifo. Kukhona okuthiwa izakhi zofuzo ezibangelwa izifo ezingokwemvelo - ukutholakala kohlobo lwamakhokho okwakungenwe ukukhubazeka, okwandisa kakhulu ingozi yokuthuthukiswa kwe-oncology inzalo. Isibonelo, izakhi zofuzo zithole ukuthi izakhi zegciwane le-BRCA1 ne-BRCA2 zibhekene nokuthuthukiswa komdlavuza webele ngamacala angu-50%. I-genetic predisposition to cancer ibangelwa ukuguquguquka kwalezi zakhi zofuzo.

Ukuhlaziywa kwe-Genetic yokukhuluphala

Emashumini ambalwa eminyaka, izazi zezokudla ziye zaqhuba izifundo eziningi, zizama ukuthola imbangela yesisindo esiningi. Ngenxa yalokho, kwafunyanwa ukuthi, ngaphezu kokungondleki, ukudla okungalingani, kunesifo sokudla ngokweqile. Ngakho kusukela esemncane, kungenzeka ukulandelela ubudlelwane obuphakathi kwe-index mass mass kanye nesandulela sokuthola isisindo. Ukuphakama kunesikhathi sokushintsha kwama-hormone emzimbeni - isikhathi sokukhulelwa, ukukhulelwa nokuncelisa, ukuyeka esikhathini sokuqala.

Phakathi kwezakhi zofuzo ezithinta isisindo, izakhi zofuzo zibizwa ngokuthi:

• I-FTO - enesibopho sesisindo;
• HMGI-C - isebenza ukukhula kwama-fat cells;
• I-NRXN3 - ithinta ukwakheka komzwelo we-saturation;
• I-FIT1 ne-FIT2 - ivuselela ukwakheka kwe-adipocytes - amangqamuzana lapho izicubu ezinamafutha zakhiwa khona.

Lapho uhlola isimo sezinhlelo nezinhlelo, ukucacisa ukuthi kuncike ekutheni ukukhuluphala, ukuhlaziywa kwegazi kusetshenziselwa ukucacisa ukuxilongwa kwezinto ezifana nalezi:

• i-leptin - ilawula izinqubo zamathambo emzimbeni, ukwandisa ukusetshenziswa kwemali;
• I-T4 mahhala, i-TSH - ama-hormone e-thyroid;
• i-hemoglobin glycated, i-glucose - ibonisa isimo se-carbohydrate metabolism.

Ukuhlolwa kwe-thrombophilia yezakhi zofuzo

Ukwenyuka okwenyuka ukwakha ama-clots egazi, thrombi, kunqunywa ezingeni le-heredity. I-genetic predisposition to thrombophilia iphawulwe uma ukuguqulwa kwegazi kuvela kuleso gciwane, okubangela ukugaya igazi - F5. Lokhu kuholela ekwandeni izinga lokukhishwa kwe-thrombin, okuthuthukisa izinqubo zokugaya igazi. Ukuguqulwa kwesakhi se-prothrombin (F2) kwandisa ukuhlanganisa kwalesi sici ohlelweni lwe-coagulation. Ngaphambi kokuguquka okunjalo, ingozi ye-thrombosis yanda izikhathi eziningana.

Ukuhlolwa kwe-Genetic ye-lactase yokungakwazi

Ukwehlukana kwe-Lactose ukuphulwa, okulungisa umzimba ukuthi awukwazi ukubamba ushukela lobisi, ngenxa yokunciphisa umzimba we-enzyme lactase. Ngokuvamile, ukuze kutholakale lesi sifo kanye nesimo sayo, ukuhlaziywa kwezakhi zofuzo kwenziwa ukuze kunqume izakhi zofuzo C / T-13910 no-C / T-22018. Bayibophezele ngokuqondile ukuhlanganiswa kwe-enzyme ephansi. Ukuhlolwa kwesakhiwo sabo kusiza ekusunguleni ukuthuthukiswa kokukhubazeka kwezinzalo, abathwali balezi zakhi zofuzo. Ukumiswa kokuhlaziywa kwezakhi zofuzo kwenziwa ochwepheshe.

Ukuhlola i-Genetic ye-Gilbert's syndrome

I-Gilbert syndrome - i-hepatic pathology yangasese, ebhekisela ezinkingeni ezinobungozi. Ngokuvamile ubhekene nomlingiswa womndeni, udlulela kubazali kuya ezinganeni. Kuhambisana nokwanda kwezinga le-bilirubin. Isizathu sisekuphukeni kokubambisana kwe-enzyme glucuronyltransferase equkethe amaseli wesibindi futhi iyingxenye ekubolekeni kwe-bilirubin yamahhala. Ukuvivinya igazi kwegazi kuyasiza ekusunguleni i-pathology ngokuhlola isakhi se-UGT1 kanye nekhophi yayo.

I-Genetic predisposition to alcoholism

Odokotela abatadisha le nkinga baqhuba izifundo eziningi, bezama ukusungula ukuxhumana phakathi kwezifiso zotshwala nezakhi zofuzo. Kodwa-ke, isifo sezofuzo ezinjalo asisungulwe. Kuningi lokucabanga, kodwa abanaso isiqiniseko sokukhonkolo. Odokotela ngokwabo bavame ukukhuluma ngesifo njengesifo esitholakale, umphumela wokuzikhethela ozimele. Lokhu kuqinisekiswa ngabantu abaphumelelayo, abaphumelelayo abazali babo abahlukunyezwa ngokweqile.

Iphasiwedi ye-Genetic

Ukwandisa emitholampilo yezempilo phakathi kwezinsizakalo ezinikeziwe kungabonakala ohlwini olufana nepasipoti yezempilo ephelele. Kuhilela ukuhlaziywa kofuzo okuphelele komzimba, okuhlose ukusungula isimo esithile kwiqembu elithile lezifo. Ngaphezu kwalokho, ukuhlolwa kwamagciwane ehhotela kusiza ukuhlonza uhlobo oluthile lomsebenzi, ukudala amathalenta afihlekile.