Ukuvivinya nge-Genetic kungakutshela mayelana nezakhi zofuzo nomlando womndeni wakho
Umzimba wakho wakhiwe ngama-trillions amaseli. Ngaphakathi ngalinye lalawo maseli isakhiwo esibizwa ngokuthi i-nucleus, esinezinhlangothi ezingu-23 zama-chromosomes ezithwala ulwazi lwakho lofuzo. I-chromosome ngayinye ikhiwa isakhiwo eside esinezintambo ezibizwa nge-DNA, esakhiwa ngamakhemikhali okuthiwa i-deoxyribonucleic acid (DNA).
Ingxenye ye-chromosomes yakho izuzwe njengefa kusukela kumama wakho kanye nengxenye enye izuzwe njengefa, ikunike amakhophi amabili azo zonke izakhi.
Abantu banezakhi zofuzo ezingaba ngu-25 000. I-DNA yakho ilandelana lezi zibili zomzimba.
Izakhi zakho zomzimba zithwala ulwazi ngalokho okwenza wena, wena. Zonke lezo zibili zihlanganisa ukwakha inhlanganisela eyingqayizivele, njengekhodi, esitshela umzimba wakho ukuthi uzoba nezinwele ezimnyama, isikhumba somnqumo, noma amehlo akho aluhlaza okwesibhakabhaka. I-DNA yakho iphinda itshele amangqamuzana akho ukuthi aziphathe kanjani, akhule futhi afe.
Cabanga nge-DNA yakho njengokungathi kuyisiteji. Izinyathelo zenziwe ngamasisekelo e-nucleotide. Ukuhlelwa kwezinsizakalo kufana nezinhlamvu zezinhlamvu zamagama. Lezi zincwadi zihlelwe ngezindlela ezipela "amagama." Lawa magama abhalwa (akopishwe) futhi ahumushe (ahunyushwa) kuma-protein (ama-enzymes) alawula konke emzimbeni wethu. Uma isakhi sithinteka, ungacabanga ngakho njengokuxuba izinhlamvu ze-alfabhethi. Igama liphuma lingalungile futhi wonke umusho akulungile. Uma leyo geni noma indawo ye-DNA ibangela umsebenzi obalulekile, izinkinga ziphumela.
Uma ikhombisa amaprotheni alawula ukuhlukaniswa kweseli, umdlavuza ungase uvele. Ngezinye izikhathi i-DNA eyengeziwe, njengamakhophi amathathu we-chromosome kunokubili, ingabangela izimo zofuzo ezifana ne-Down syndrome.
Ukuthola i-DNA yakho ihlolwe
Uma une-DNA yakho ihlolwe, i-DNA yakho iyasakazwa futhi ifundwa. Njengoba iseli ngalinye linamamitha angaphezu kuka-6 e-DNA ngaphakathi kwamaselula ngayinye (i-DNA ihlanganiswe ngokuqinile ukuze yenze i-chromosome, ukuze ifinyelele ngaphakathi kwe-nucleus), iseli ngalinye lingabamba ulwazi oluningi lwezakhi zofuzo ngokuphelele kunoma ubani okunye.
Okuhlukile kuphela amawele afanayo, abelana nge-DNA efanayo.
Ukuze wenze ukuhlolwa kwe-DNA, kuzodingeka uthathe isampula yamaseli wakho. Lesi sampula singaba segazi lakho, amathe, amangqamuzana esikhumba noma ngisho ngaphakathi kwesigama sakho. Uma unomdlavuza, i-DNA yakho izothathwa isampula yesisu sakho. Ngokuvamile, amasampula wokuhlola i-DNA athathwa udokotela noma imtholampilo futhi athunyelwa ebhodini elihlolwayo lofuzo olukhethekile lapho i-DNA yakho ihlukaniswa khona namaseli akho.
Ukuze kuhlolwe igazi, inaliti nesirinji kudingeka adonse isampula yegazi. Ukuze unike isampula seseva, uphelela ngaphakathi kwipayipi. Ukuze uthole i-swab yesoka, ukufaka ngaphakathi kwesigama sakho nge-swab enkulu ye-cotton kufanele wenze lo msebenzi.
Kuzothatha isonto noma ngaphezulu ngemiphumela ebuya ebhodini, njengoba kuthatha isikhathi ochwepheshe bezobuchwepheshe ukuvula futhi ufunde ukulandelana kwezakhi zofuzo eduze kwe-DNA strand.
Ukuvivinya izifo ze-Genetic
Uma udokotela wakho ekusola ukuthi wena noma ingane yakho ine-genetic disorder, bazokwenza ukuhlolwa okuqhubekayo ukuze bahlolisise inkinga. Ososayensi bangase bafune ushintsho esakhiweni esithile esihlotshaniswa nesifo esithile sofuzo. Ukuhlolwa kwe-DNA kungase futhi kukwazi ukukhomba noma yiliphi amalungu omndeni anengozi noma asemngciphekweni, ahlakulele isifo sofuzo.
Isivivinyo esisodwa esivamile ukuhlolwa kwe- phenylketonuria , eyenziwa kuzo zonke izingane ezisanda kuzalwa. Uma ingane yakho, ngenxa yokuzalwa noma ukuguqulwa, ingenalo igesi ebonisa ukuthi i-phenylalanine hydroxylase ye-enzyme, noma iyiphi i-phenylalanine ayidla ingaholela ekulimazeni kwengqondo. Kodwa-ke, uma igciwane elingavamile litholakala ekuzalweni, izingane zingaholela ekuphileni okujwayelekile ngokulandela ukudla okuvimbelayo.
Olunye uvivinyo udokotela wakho angase alandise yi- karyotype . Ama-karyotypes abuke ama-chromosomes ku-DNA. Amakhophi engeziwe e-DNA noma izicucu ezingekho zingabonisa ukungavamile kwezakhi zofuzo. Uma ingane yakho inama-chromosomes angu-47 esikhundleni se-46 evamile futhi inezinkokhelo ezintathu ze-chromosome 21 kunokubili, zine- Down's syndrome .
I-Down syndrome yinto engavamile kakhulu ye-chromosomal. Ukukhulelwa okuningi ngenani elingavamile lama-chromosomes kuphela ekukhulelweni kokuphutha. Uma unomlando wezinsizwa eziphindaphindiwe, udokotela wakho angancoma ukuhlolwa karyotype kzali.
Kwezinye izimo, ungase ungabi nesimo sezakhi zofuzo, kodwa uma uphethe ikhophi engavamile emajenjini wakho, usengozini yokudlulisela isimo phansi kubantwana bakho. Isibonelo salokhu yi-cystic fibrosis. I-cystic fibrosis yinkinga eguquguqukayo ye-autosomal, okusho ukuthi kufanele uzuze ikhophi engavamile yegciwane le-CFTR kubantwana bakho bobabili ukuze uthole lesi sifo. Abazali bangakhetha ukuhlolwa kwe-genetic ye-cystic fibrosis ukubona ukuthi bayithwala yini.
Uma uphatha isimo sezakhi zofuzo, udokotela wakho angase anikeze iseluleko sokuhlolwa kwesandulela ngculazi, esetshenziselwa ukubona ukuthi i-embryo ekhulelwe nge-in vitro fertilization (i-IVF) ine-genetic disorder kanye nokukhetha imibungu yokufakelwa okungenayo isifo.
Okunye ukusetshenziswa kwezokwelapha zokuhlola izakhi zofuzo kubheka izicubu. Amathumba amaningi anezakhi zofuzo ezenza "ukukhula" kwazo. Ukuvivinya nge-genetic kungatshela ukuthi umdlavuza othile unomthelela wokuguqulwa kwezakhi zofuzo onokwelashwa okwelashwa. Izinguquko eziningi zofuzo emangqamuzaneni omdlavuza zenzeka ngemuva kokuzalwa futhi zingenalo ifa ngaphandle kwe-BRCA1 ne-BRCA2, ehlobene nomdlavuza webele.
Ezinye izinhlobo zokuhlolwa kweGenesis
Ukuhlolwa kwesibindi kuqinisekisa ukuthi ingane yakho ihlotshaniswa noyise. Ukuhlolwa kwezingane ezibhekwa njengokwethenjelwa kunomthelela owodwa ongajwayelekile, ukukhwabanisa. Uma uyi-chimera, amaseli akho angase abe ne-DNA ehlukile. Lokhu kwenzeka njalo emawele, abelana ngeDNA namanye amawele; kumama abaye bazalwa futhi kungenzeka ukuthi bathathe i-DNA evela emntwaneni wabo, nalabo abaye bafaka igazi noma izidumbu. UMoseic Down syndrome ungenye indlela ye-chimera.
Ukuvivinya ngezifo kusetshenziselwa izigcawu zobugebengu. Amathimba ophenyo ophenyo asebenzisa ukuhlolwa okukhethekile ukukhulisa inani le-DNA etholakalayo yokuhlolwa. I-DNA endaweni yesehlakalo ingavela emangqamuzaneni egazi, amangqamuzana omuthi, noma amanye amangqamuzana omzimba njengezinwele noma amathe. I-DNA ye-Mitochondrial ayifuni ukusetshenziswa kaningi kuma-forensics.
Ukusetshenziswa okukhulayo kwezivivinyo zofuzo kuyisivivinyo sobukhokho. I-DNA evela kubantu ababili ingafaniswa nokubona ukuthi ifana nezindlela ezithile ezibalulekile ezingasho ukuthi zihlobene. I-DNA ye-Mitochondrial, ngokungafani ne-DNA yenuzi, ayitholakali kuyi-nucleus yeseli ngayinye, kodwa itholakala ku-mitochondria - organelles ku-cytoplasm yeseli esebenza njengesitshalo samandla eseli futhi ine-chromosome eyodwa kuphela ehlanganiswe embuthanweni. I-DNA ye-Mitochondrial ilula kakhulu kune-DNA ye-nyukliya futhi ithwala uhlelo (ama-geni kuphela angu-37 kuphela) kuphela ama-enzyme ambalwa ahileleke ekudakeni kwe-metabolism.
I-DNA ye-Mitochondrial idluliselwa kusuka kumama yedwa. Ukuvivinya kwe-DNA mitochondrial akunikezi ulwazi ngobaba wakho kodwa kungasiza ekutholeni umndeni womama-ngisho neminyaka eminingi esikhathini esidlule. I-DNA ye-Mitochondrial, ngokungafani ne-DNA ye-nyukliya kulula kakhulu ukuza futhi ingasetshenziselwa ukwenza ubunikazi (okungenani umama) ngisho nalapho kungekho DNA yenuzi ekhona.
Izindleko Zama-Genetic Testing Zingakanani?
Izindleko zokuhlolwa kwe-DNA zincike ekutheni hlobo luni lokuhlolwa oludingekayo. Ezinye izivivinyo ezilula, njengezivivinyo ze-paternity noma lezo ezisetshenziselwa ukuguqulwa kwezakhi zofuzo ezilula, zingadla ama-dollar ambalwa noma ngaphansi. Ukuhlolwa okulukhuni okunjengezifo ezingavamile zofuzo, kungabiza izinkulungwane zamaRandi. Ngenhlanhla, ngenxa yezinhlayiya zofuzo nezinkampani ezinikeza ukuhlolwa kookhokho, ukuhlolwa okuvame kakhulu kuye kwehla ngezindleko.
Ukuziphatha kokuhlolwa kweGenesis
Kukhona ukungqubuzana okuncane mayelana nokusetshenziswa okuvamile kwezivivinyo ezithile zokubeletha. Uma izimo ezithile zitholakala ngesikhathi sokuzalwa, njenge-phenylketonuria, ingane yakho ingaba nekusasa okunempilo. Kodwa-ke, akuzona zonke izimo zofuzo ezingelashwa kanti ezinye aziveli kuze kube umuntu omdala. Isifo sikaHuntington, isifo esiqhubekayo sezinzwa, siqala kamuva futhi asinakho ukwelashwa noma ukwelashwa. Ezimweni ezinjengalezi, abanye abantu bahlola ukuhlolwa kwangaphambili.
Kwezinye izimo, ungase uthathwe "kumdlavuza wegciwane," njenge-BRCA1 ne-BRCA2. Ukwazi ukuthi unalezi zakhi zofuzo zingakusiza wenze izinqumo ezibalulekile mayelana nempilo yakho. Noma kunjalo, kuyisinqumo sakho, futhi uma ungcono noma ungenalo ulwazi.
> Imithombo:
> Chard, R., noMn. Norton. Ukweluleka Ngezifo Zabagulayo Ngokucubungula Ukuhlolwa Nokuhlolwa Kwama-Chromosomal. Ukuvivinya I-Laboratory Clinic . 2016. 36 (2): 227-36.
> Fonda Allen, J., Stoll, K., noBernhardt. Ukululekwa kwe-Genetic Pre-Post-Test for Chromosomal and Mendelian Disorders. Ama-Seminars ePerinatology . 2016. 49 (1): 44-55.