Ungayithola kanjani ukuthi unezakhi zofuzo ezingase ziholele ku-cystic fibrosis (CF) enganeni yakho? Kungani singakwazi njalo ukuthi kukhona umuntu onokuguqulwa okungaholela ku-cystic fibrosis? Futhi kungani ukuhlola kuyabiza kakhulu?
Sibutsetelo
Kubalulekile ukucacisa kahle ukuthi ukuhlolwa kofuzo kwe-cystic fibrosis kusho ukuthini ukuqonda le mibuzo. Sinezivivinyo ezingase zihlolisise i-cystic fibrosis ezinganeni, ngisho nasekuzalweni , ngaphambi kokuba kube khona izimpawu.
Ukuhlolwa kombuso wesithwali, noma kunjalo, kuhlukile.
Ukuhlolwa kwe-genetic ye-cystic fibrosis ukuguqulwa kuhilela ukuhlola umuntu ongenakho, futhi ngeke ahlakulele, ukuguquguquka kwezakhi zofuzo angayidlulisela ezinganeni, okuzoholela ekutheni i-cystic fibrosis.
Kulinganiselwa ukuthi e-United States, abantu abangaphezu kuka-30 000 bane- cystic fibrosis futhi abantu abangaphezu kwezigidi ezingu-10 bathwala umkhuba we-cystic fibrosis . Ophetheyo akanalo isifo noma yiziphi izimpawu kodwa uyakwazi ukudlula i-CF kumntwana.
I-Genetics 101
AmaGenesis yizinhlelo zethu zezakhi zofuzo futhi zithwala ukuthwala ulwazi lwento yonke kusuka kumbala weso kuya ekuklanyeni kwe-enzyme ezigaya ukudla emgudleni wethu wokugaya. I-DNA yethu iqukethe ama-chromosomes angu-46, angu-23 avela kumama wethu no-23 ovela kobaba.
Igazi liyingxenye ehlukile ye-chromosome. Izakhi zethu zemizimba nazo zakhiwa izinhlanganisela ezine zamaminithi amino, ezenza "njengezinhlamvu" ezihlanganisa "amagama" lapho zihlangene. Ukushintshwa kubhekisela kunoma yimuphi umonakalo wegesi lapho umyalelo ovamile walezi zincwadi uhlanganisiwe.
Kungaba nezinhlamvu ezingekho, izincwadi ezongezwayo, noma zingalungiswa ngezindlela ezihlukahlukene.
Ngokulula, ungase ucabange ngokuguquguquka njengegama encwadini. Uma incwadi ilahlekile noma ihlelwe kabusha, igama elihlukile lifakiwe. Emzimbeni, i-DNA yethu "ihunyushwa" ekwakheni amaprotheni.
Uma ukuguqulwa komphumela kubangelwa ukukhiqizwa kwesiprotheni engavamile, izifo ezifana ne-cystic fibrosis zingase ziholele.
I-Genetics & Cystic Fibrosis
Ukuhlolwa kwe-genetic ye-cystic fibrosis kwenziwa ukunquma ukuthi umuntu unalo yini, noma umthwali we-cystic fibrosis. Uhlolo luvame ukwenziwa ngesampula segazi, kodwa ngezinye izikhathi lungenziwa kwezinye amaseli a-DNA anjenge-swab avela ngaphakathi kwesigama. Isampula ihlolwe iphaneli ethile yezinguquko zomuthi we- cystic fibrosis transmembrane regulator (CFTR) .
Wonke umuntu unamakhophi amabili wegciwane le-CFTR kuwo wonke amaseli awo. Uma ikhophi eyodwa , eyaziwa nangokuthi i-allele itholakala ukuthi inokuguqulwa, lowo muntu uyithwala. Uma kokubili amakhophi wegesi ashintshwe, lo muntu unesifo se-cystic fibrosis.
Ukuze ingane ihlakulele i-cystic fibrosis, idinga ukuba izuze izakhi ezimbili zegciwane eziguqulwayo, okuvela kumama wazo kanye noyise. Uma kuphela umama noma ubaba enegciwane eliguquguqukayo, ingane ingase ibe yinkampani ye-CF, kodwa ngeke ihlakulele i-cystic fibrosis.
Ukuguqulwa kwezakhi zofuzo ngokuvamile akulona uhlobo olulodwa kuphela. Kunalokho, kunezindlela eziningi ezehlukene lapho isakhi singase singavamile. Kunezinguquko ezingaphezu kuka-1 500 ezihlukahlukene ze-CFTR ezaziwa ukuthi zibangele i-CF, futhi kutholakala ushintsho olusha njengoba ucwaningo luqhubeka.
Awekho ukuhlolwa kokuhlola kuzo zonke izinguquko ezenzekayo ze-CF, kodwa ukuhlolwa okunaminingana kuyatholakala ukuthi uhlole ukuguqulwa kwe-CFTR evame kakhulu. Izindleko zezilinganiso zokuhlola izakhi zofuzo kusuka kuma-dollar ambalwa kuya ku-dollar ayizinkulungwane ezimbalwa, futhi kungenzeka noma zingabhekwa ngumshuwalense.
Ukuvivinya I-Genetic ye-Cystic Fibrosis
Ukuhlolwa okuyisisekelo kofuzo lwe-cystic fibrosis ngezinye izikhathi okubizwa ngokuthi i-ACMG / ACOG Mutation Panel noma iphaneli engu-23 lokuguqula, libheke ukuguqulwa kwe-CFTR okwenzeka kakhulu. Lokhu kuhlolwa kungamaphesenti angama-90 aphumelelayo ekutholeni izinguquko ze-CF kubantu baseCaucasus, kodwa kuphela amaphesenti angama-70 asebenzayo kuma-Afrika aseMelika kanti amaphesenti angama-60 asebenza kahle kubantu baseSpanishi.
Ukuhlolwa kutholakala kabanzi kumalabhu wendawo nendawo, kodwa ukuguqulwa okuqondile okuvivinywa kuzohluka ngokuvumelana nezinqubo zebhulethi. Amanye ama-laboratory ahlolisise ukuguqulwa okunye, kodwa ukuhlolwa okuyisisekelo kufanele okungenani kuhlanganise nezinguquko ezingu-23 eziphakanyiswe yi-American College of Medical Genetics (ACMG) kanye ne-American College of Obstetricians and Gynecologists (ACOG). Imiphumela ngokuvamile itholakale ezinsukwini ezimbalwa kodwa ingathatha isikhathi eside uma isampula kumele ithunyelwe ebhodini elikhulu lokuhlola.
Ezinye izinkampani ziye zahlakulela ukuhlolwa okungabonisa ukuguqulwa okungezansi okuvamile ngaphezu kwalabo iphaneli eliphakanyisiwe le-ACMG / ACOG. Lezi zivivinyo zingasiza ngokukhethekile ekutholeni izinguquko ezingavamile zokushintshashintsha kwe-cystic fibrosis uma kwenziwa ngokuhlolwa kokulandelela uma iphaneli eyisisekelo iveza imiphumela evamile.
Abanye abantu bakhetha ukuhlolwa okuphelele ngokwengeziwe kokuhlolwa kwabo kokuqala, ikakhulukazi uma kungenzeka ukuthi banokushintshashintsha okungajwayelekile kwe-CFTR. Izivivinyo eziphambili ziyazikhethela kakhulu futhi kufanele zithunyelwe kumalabhu abanika zona. Lezi zivivinyo zingadla ngaphezulu futhi zithathe isikhathi eside ukuthola imiphumela ngaphandle kwephaneli yokuhlola eyisisekelo eyenziwe ebhodini lendawo.
Uma ucabangela ukuhlolwa kwe-carrier ye-cystic fibrosis, kubaluleke kakhulu ukukhuluma nomeluleki wezakhi zofuzo. Ngokuvamile, ukuhlolwa kutholakale ukuthi kunomthelela omuhle ngezindlela eziningi, kusukela ekuvumela abazali ukuba bahlukumezeke ngokuhlolwa kokubeletha ukuze ingane yabo ilashwe kusukela ekuzalweni ukuze iqiniseke labo abathola ukuthi abathwali bendlela.
Kulabo abangakhulelwe ngesikhathi sokuhlolwa, nokho bathola ukuthi bangabathwali, kunezinqumo eziningi ezithinta inhliziyo nezokuziphatha ezizodinga ukucatshangisisa ngokucophelela nokusekelwa okuningi.
Imithombo:
UBrennan, M., no-I. Schrijver. Buka Kufakiwe 0 Lalela Funda Kudivayisi kuphela Kwengeziwe Buka Kufakiwe Cystic Fibrosis: Cystic Fibrosis: Cystic Fibrosis 0 Lalela Funda Kudivayisi kuphela Kwengeziwe Buka Kufakiwe 0 Lalela Funda Kudivayisi kuphela Kwengeziwe I Journal of Molecular Diagnostics . 2016. 18 (1): 3-14.
Dugueperoux, I., L'Hostis, C., Audrezet, M et al. Ukuqokomisa Umthelela Wokuhlolwa Kwezinhlamvu Ze-Cascade ku-Cystic Fibrosis Imindeni. Journal of Cystic Fibrosis . 2016. 15 (4): 452-9.
Straniero, L., Solda, G., Costantino, L. et al. Ukulinganisa kwe-Whole-Gene CFTR Okuhlanganiswe ne-Digital RT-PCR Kuthuthukisa Ukuxilongwa Nge-Genetic ye-Cystic Fibrosis. I-Journal of Human Genetics . 2016. 61 (12): 977-984.