Indlela yesayensi
Ukukhuluma ngokuzwakalayo, akekho umzali okhokhelwa ngengozi. Ngamunye wethu unesilinganiso sama-gciwane angama-10-12, esasithola ezihlotsheni zethu futhi, mhlawumbe, sizokunikeza izingane zethu. Namuhla, isayensi iyazi izifo ezingaba ngu-5000 zezifo, ezithuthuka ngenxa yezinkinga ezithombeni zomzimba zamasosha - ezigeni noma ama-chromosomes.
Zihlukaniswe ngamaqembu amathathu amakhulu: i-monogenic, i-polygenic ne-chromosomal.
Namuhla cishe noma yikuphi ukugula okungachazwa kusukela ekubukeni kwezakhi zofuzo. I-tonsillitis engapheli - i-inherited hereditary immunity, i-cholelithiasis - ukuphazamiseka kwesifo somzimba.
Izinhlobo zezifo
Izifo ze-monogenic zibangelwa isici segesi esisodwa. Namuhla, cishe izifo ezinjalo ezingu-1400 ziyaziwa. Nakuba ukusabalalisa kwabo kuphansi (5-10% wezinombolo eziphelele zezifo ezifa), aziqedi ngokuphelele. Phakathi kwezinto ezivamile eRussia - i-cystic fibrosis, i-phenylketonuria, i-adrenogenital syndrome, i-g-lactosemia. Ukuthola lezi zifo, zonke izingane ezisanda kuzalwa ezweni lethu zihlolwa ngokukhethekile (ngeshwa, akukho lizwe emhlabeni elingabheka izingane ukuba khona kwazo zonke izakhi zofuzo ezingalungile). Uma ukuphambuka kutholakala, ingane idluliselwa ekudleni okukhethekile, okumelwe ibonwe ngaphambi kokuba ineminyaka engu-12, futhi ngezinye izikhathi kuze kube yiminyaka engu-18. Uma abazali abagulayo bezalwa izingane ezinempilo, zonke izinzalo zalezi zinsuku zizoba "ngaphandle kwephutha".
Izifo ze-polygen (noma izifo eziningi) zihlobene nokuphulwa kokusebenzisana kwezakhi zofuzo eziningana, kanye nezici zemvelo. Leli yiqembu elikhulu kunazo zonke - lihlanganisa cishe amaphesenti angu-90 azo zonke izifo zabantu ezifalayo zokuvimbela kanye nokwelapha okulandelayo.
Izindlela zokudlulisa
I-transmitter esemqoka yesifo ngumama ogulayo noma ubaba. Uma bobabili bebhekene nalesi sifo, ingozi iyanda izikhathi eziningana. Kodwa-ke, ngisho noma wena nomlingani wakho niphilile, kunezinhlobo eziningi zezakhi zofuzo ezingalungile emzimbeni wakho. Bavele bacindezeleke ngokujwayelekile futhi "bathule." Uma kwenzeka ukuthi unesisindo esifanayo "esingenalutho" nomyeni wakho, izingane zakho zingase zihlakulele isifo esiyingqayizivele.
Isici sayo sefa sisezifo "ezihlobene nobulili" - i-hemophilia, isifo sikaGünter. Zilawulwa yizakhi zofuzo ezise-chromosome yesondo. Abazali besiguli banezinhlobo ezithile ze-oncology, izinkinga zokuthuthukiswa (kufaka phakathi i-hare lip nenkomo yomlomo). Kwezinye izimo, abazali abadlulisanga lesi sifo, kodwa kunesifo (isifo sikashukela, isifo senhliziyo, ukuphuza utshwala). Izingane zithola inhlanganisela engavumelekile yezakhi zofuzo, ngaphansi kwezimo ezithile (ukucindezeleka, ukuhlukumezeka okukhulu, ukulimazeka kwemvelo) kungaholela ekuthuthukiseni lesi sifo. Futhi lapho kukhulunywa kakhulu lesi sifo kumama noma ubaba, kuphakama ingozi.
Izifo ze-Chromosomal zefa, ukuvimbela nokwelashwa kwazo kunikezwa isikhathi esiningi nomzamo, zivela ngenxa yokushintsha kwenombolo nesakhiwo se-chromosomes. Isibonelo, i-anomaly edumile kunazo zonke - Isifo esiphezulu - siwumphumela wokuhamba kathathu kwama-chromosomes. Ukuguquka okunjalo akuyona into engavamile, kwenzeka ku-6 kwezinsana. Ezinye izifo ezivamile ziyi-syndromes ka-Turner, Edwards, Patau. Zonke zibhekene nemikhuba eminingi: ukubambezeleka ekuthuthukiseni ngokomzimba, ukuphuza kwengqondo, ukushaya inhliziyo, i-genitourinary, ukukhathazeka nezinye izinkinga. Ukwelashwa okungajwayelekile kwe-chromosomal akutholakali.
ingane ingaba enempilo, kepha uma umama ethwala isakhi se-mutant, amathuba okukhiqiza umfana ogulayo angama-5%. Amantombazane azalwa enempilo, kodwa ingxenye yawo, ibe yilabo abathwala isakhi sofuzo. Ubaba ogulayo akadlulisanga lesi sifo emadodaneni akhe. Amantombazane angagula kuphela uma umama ethwele.
Kusukela eTibombeni laseGibithe
UFaro Akhenaten nendlovukazi uNefertiti labadala baboniswa ukubonakala okungavamile. Kuvela, akuyona nje umbono wezobuciko wabadwebi. Ngokusho kohlobo lwe-skull olungajwayelekile, "amehlo", izinyathelo ezincane ezingavamile (okungukuthi okuthiwa "iminwe ye-spider"), i-chin "engabonakali" ("inyoni ebusweni"), ososayensi bahlonza i-Minkowski-Shafar syndrome - enye ye-anemia.
Kusuka kumlando waseRussia
Ukuhlukunyezwa kwegazi (i-hemophilia) endodaneni yezokugcina yaseRussia uTar Nicholas II Tsarevich Alexei nayo iyinzalo yemvelo. Lesi sifo sidluliselwa ngomugqa womama, kodwa sibonakala kuphela kubafana. Cishe, umnikazi wokuqala wegciwane le-hemophilia kwakuyiNdlovukazi uVictoria waseBrithani, ugogo-ugogo ka-Alexei.
Izinkinga ekuboneni
Izifo ze-Hereditary azibonakali njalo kusukela ekuzalweni. Ezinye izinhlobo zokuphuza kwengqondo zibonakala kuphela lapho ingane iqala ukukhuluma noma iya esikoleni. Kodwa ukuvuthwa kweGoettington (uhlobo lokuphuza kwengqondo okuqhubekayo) kungavamile ukubonakala kuphela emva kweminyaka.
Ngaphezu kwalokho, izakhi zofuzo "ezingenalutho" zingaba yizingcingo. Isenzo sabo singabonakala kuyo yonke impilo - ngaphansi kwethonya lezici zangaphandle ezingalungile (impilo engafanele, ukuthatha izidakamizwa eziningi, imisebe, ukungcola kwemvelo). Uma ingane yakho iwela eqenjini eliyingozi, ungahlola ukuhlolwa kofuzo lwama-molecule okuzosiza ekutholeni amathuba okuba nesifo esimweni ngasinye. Ngaphezu kwalokho, isazi singachaza izinyathelo zokuzivikela. Uma izakhi zofuzo ezigulayo ziphezulu, akunakwenzeka ukugwema lesi sifo. Ungakwazi kuphela ukukhulula izimpawu zesifo. Kungcono okwamanje, zama ukuxwayisa ngaphambi kokubeletha.
Iqembu eliyingozi
Uma wena noshade naye ninesinye sezici, kungcono ukuba nithole ukwelulekwa ngezokwelapha ngaphambi kokukhulelwa.
1. Ukutholakala kwamacala amaningana wezifo ezifuywayo kuzo zombili imigqa. Ngisho noma uphilile, ungaba yizintambo zezakhi zofuzo ezingalungile.
2. Ubudala bungaphezu kweminyaka engama-35. Phakathi neminyaka, inani lokuguqulwa komzimba emzimbeni liqoqa. Ingozi yezifo eziningi ikhula ngokucacile. Ngakho-ke, ngesifo se-Down for unina oneminyaka engu-16 ubudala, ngu-1: 1640, oneminyaka engu-30 ubudala - 1: 720, abaneminyaka engu-40 ubudala - kakade u-1:70.
3. Ukubelethwa kwezingane ezidlule ezinezifo ezibucayi.
4. Izigameko eziningana zokukhulelwa kwesisu. Ngokuvamile, zibangela ukungavamile okungokwemvelo noma kwe-chromosomal ebusweni.
5. Ukudla isikhathi eside kwemithi yowesifazane (i-anticonvulsant, i-antithyroid, izidakamizwa eziphikisanayo, i-corticosteroids).
6. Ukuthintana nezinto ezinobuthi nezingozi, kanye nokudakwa ngokweqile nokulutha izidakamizwa. Konke lokhu kungabangela ukushintshashintsha kwezakhi zofuzo.
Ngenxa yokuthuthukiswa kwemithi, manje bonke abazali banokukhetha - ukuqhubeka nomlando womndeni wesifo esibucayi noma ukuwuphazamisa.
Izindlela zokuvimbela
Uma usengozini, udinga ukubonisana ne-geneticist. Ngokususelwa kumuntu olandelanayo kanye nolunye ulwazi, uzokwenqumela ukuthi ukwesaba kwakho kulungile yini. Uma udokotela eqinisekisa ingozi, kufanele uhlole ukuhlolwa kofuzo. Kuzocaca ukuthi uthwala amaphutha ayingozi.
Uma ingozi yokukhiqiza izinyane eligulayo liphakeme kakhulu, ochwepheshe bayeluleka esikhundleni sokukhulelwa kwemvelo ukuze bafinyelele ekufakeni umanyolo we-in vitro (IVF) ne-pre-plantation diagnosis (PGD). I-PGD ivumela iseli elilodwa elithathwe embubilini ukuqonda ukuthi liphilile yini noma ligula. Khona-ke, imibungu enempilo kuphela ekhethiwe futhi ifakwe esibelethweni. Ngemuva kwe-IVF, izinga lokukhulelwa lingama-40% (okungaphezu kwenqubo eyodwa kungadingeka). Kumele kukhunjulwe ukuthi ukuhlola umbungu kwenziwa ngesifo esithile (okubonwa kusengaphambili kwengozi eyengeziwe). Lokhu akusho ukuthi ingane ezalwe ekugcineni iqinisekiswe kwezinye izifo, kufaka phakathi izifo zefa. I-PGD indlela eyinkimbinkimbi futhi engabizi, kodwa isebenza kahle ngezandla zobuchwepheshe.
Ngesikhathi sokukhulelwa, kubalulekile ukuvakashela yonke i-ultrasound ehleliwe futhi unikeze igazi "ekuhlolweni okuphindwe kathathu" (ukuhlola izinga lokubeka ingozi yentuthuko yezokwelapha). Ngengozi yokushintshashintsha kwe-chromosomal, i-chorionic biopsy ingenziwa. Nakuba kunesisindo sokukhipha isisu, lokhu kukhwabanisa kwenza kube lula ukucacisa ukuthi kukhona okungavamile kwe-chromosomal. Uma zitholakala, ukukhulelwa kunconywa ukuthi kuphazamiseke.