Indlela yesayensi
Ukuthetha ngokunyanisekileyo, akukho mzali okhuselekayo kule mngcipheko. Ngamnye wethu unomyinge we-10-12 weengxaki zeengcambu, esizifumana kwiintsapho zethu, mhlawumbi, siya kunika abantwana bethu. Namhlanje, inzululwazi iyazi malunga ne-5000 izifo ezifa, eziphuhliswa ngenxa yeengxaki eziphathekayo zomzimba zomntu - kwiijisi okanye kuma-chromosomes.
Zihlukaniswe zibe ngamaqela amathathu aphezulu: i-monogenic, i-polygenic ne-chromosomal.
Namhlanje phantse naluphi na uhlobo lokugula lungachazwa ukusuka kwindawo yokujonga imfuza. I-tonsillitis engapheliyo-i-defect defect of the immunity, cholelithiasis
Iintlobo zezifo
Izifo zeMonogen zibangelwa sisiphako semfuyo eyodwa. Namhlanje, malunga nezi-1400 izifo ezinjalo ziyaziwa. Nangona ukuxhaphaka kwabo kuphantsi (5-10% yenani lazo zonke izifo ezifa), azipheli ngokupheleleyo. Phakathi kwezona ziqhelekileyo eRussia - i-cystic fibrosis, i-phenylketonuria, i-adrenogenital syndrome, i-lactosemia. Ukufumanisa le ntsholongwane, zonke iintsana ezisetyenziswayo kwilizwe lethu zifumana iimvavanyo ezizodwa (ngelishwa, akukho lizwe ehlabathini lingabhekisisa abantwana ngenxa yobomi bazo zonke iinjongo eziphene). Ukuba ukuphambuka kufunyenwe, umntwana ushukunyiswa kwisidlo esikhethekileyo, esimele sijongwe ngaphambi kokuba sibe neminyaka eyi-12, kwaye ngamanye amaxesha ukuya kwi-18 iminyaka. Ukuba abazali abagulayo bazalwa abantwana abanobuchule, ke yonke inzala yolu hlobo iya kuba "engenasiphako".
Izifo ze-Polygen (okanye izifo ezininzi) zidibene nokuphulwa kokusebenzisana kweezityalo ezininzi, kunye nemeko yendalo. Eli liqela elona liqela-liquka malunga ne-90% yazo zonke izifo ezizuze abantu ezikhuselekileyo zokukhusela nokunyanga.
Iindlela zokuhambisa
Umphambili omkhulu wesifo eso ngumama ogulayo okanye uyise. Ukuba bobabini banesifo eso, umngcipheko ukwandisa amaxesha amaninzi. Nangona kunjalo, nangona wena kunye neqabane lakho niphilile, kukho inani leengcambu eziphosakeleyo emzimbeni wakho. Baxhatshazwa ngokuqhelekileyo kwaye "bathule." Kwimeko apho unomzimba ofanayo "ongenalutho" kunye nomyeni wakho, abantwana bakho banokuvelisa isifo esiza kufa.
Isabelo sazo sisezifo "ezinxulumene nesondo" - i-hemophilia, isifo sikaGünter. Zilawulwa ngamajethi ase-chromosome yesini. Abazali besigulane baneentlobo ze-oncology, iziphulo zokuphuhliswa (kuquka i-hare lip kunye nomlomo wempisi). Kwezinye iimeko, abazali abayifaki isifo ngokwayo, kodwa isisifo sayo (isifo sikashukela, isifo senhliziyo, utywala). Abantwana bafumana inhlanganisela engafanelekanga yamagciwane, apho phantsi kweemeko ezithile (uxinzelelo, ubunzima obukhulu, ubunzima bezinto eziphilayo) kunokukhokelela ekuphuhlisweni kwesi sifo. Kwaye kwathethwa ngakumbi isifo sikamama okanye ubaba, inkulu ingozi.
Izifo ze-Chromosomal zefa lomntu, ukukhuselwa kunye nokunyanga kwabo banikezelwa ixesha elikhulu kunye nomzamo, zivela ngenxa yenguqu kwinani kunye nesakhiwo se-chromosomes. Ngokomzekelo, i-anomaly eyaziwayo kakhulu-isifo esihlaseleyo-sisiphumo sesithathu se-chromosomes. Ukuguquka okunjalo akuyinto engavamile, kuvela kwi-6 yeintsana. Ezinye izifo eziqhelekileyo zi-syndromes ze-Turner, Edwards, Patau. Zonke zibonakaliswa ziziqhamo ezininzi: ukulibaziseka ekuphuculeni ngokomzimba, ukulibala kwengqondo, i-cardiovascular, i-genitourinary, i-fear and other malformations. Unyango lwe-chromosomal engafanelekanga awukafumaneki.
umntwana angaphila, kodwa ukuba unina ungumthwali we-gene mutant, amathuba okuvelisa inkwenkwe egulayo i-5%. Amantombazana azalwe enempilo, kodwa isiqingatha sawo, siba ngumthwalo wesithintelo somzimba. Utata ogulayo akayifaki isifo kubantwana bakhe. Amantombazana angagula kuphela xa umama ephethe.
Ukusuka kwiTombombo yaseYiputa
UFaro Akhenaten kunye nenkosikazi uNefertiti abadala babonakaliswa ngembonakalo engavamile. Kuvela, akuwona nje umboniso wobugcisa wabalingisi. Ngokwemiqathango engabonakaliyo, "inqaba" yeengqayi, amehlo amancinci, amaqatha amanqabile (okubizwa ngokuba "yiminwe yesicabangulu"), i-chin "engabonakaliyo" ("ubuso bentaba"), izazinzulu zichaza i-Minkowski-Shafar syndrome - enye yegazi legazi (i-anemia).
Yembali YaseRashiya
Ukuchithwa kwegazi (i-hemophilia) kwindodana yokugqibela yaseRussia uTar Nicholas II Tsarevich uAlexei nayo ifa ngokwemvelo. Esi sifo sidluliselwa kumgca womama, kodwa sibonakala kuphela kubafana. Inokwenzeka ukuba, umnikazi wokuqala wegciwane le-hemophilia wayengumKumkani waseVrithani waseBrithani, u-Alexei ugogo-ugogo.
Iingxaki ekuboneni
Izifo ezizihlambulukileyo azibonakali zivela kubantwana. Ezinye iintlobo zokulinda kwengqondo zibonakala kuphela xa umntwana eqala ukuthetha okanye ukuya esikolweni. Kodwa ukuvuthwa kweGoettington (uhlobo oluthile lokuphulukiswa kwengqondo) luyakwazi ukubonakala kuphela emva kweminyaka.
Ukongezelela, izakhi zofuzo "ezingenanto" zingaba yimfumba. Isenzo sawo singabonakala kuyo yonke into - phantsi kwefuthe lezinto ezingaphandle zangaphandle (ukuziphatha okungenampilo, ukuthatha ininzi yeziyobisi, imisebe, ukungcola kwendalo). Ukuba umntwana wakho ewela kwiqela elijongene nobungozi, unokufumana uvavanyo lofuzo lwemilotiki oluya kukunceda ukuchonga amathuba okufumana isifo kwimeko nganye. Ngaphezu koko, ingcali inokumisela amanyathelo okukhusela. Ukuba iigulo ezigulayo ziphezulu, akunakwenzeka ukukhusela eso sifo. Ungakwazi ukukhupha kuphela iimpawu zesifo. Kungcono nokho, zama ukuwaxwayisa ngaphambi kokuhambisa.
Iqela leengozi
Ukuba wena kunye neqabane lakho nenye yezinto, kungcono ukufumana iingcebiso ngezokwelapha ngaphambi kokukhulelwa.
1. Ubuninzi beemeko zezifo ezifa kwiimbini zombini. Nangona unempilweni, unokuba ngabaphathi bezityalo eziphosakeleyo.
2. Ubudala bungaphezulu kweminyaka engama-35. Kule minyaka, inani lezitshintsho kumzimba liqokelela. Umngcipheko weenani zezifo ukhula ngokucacileyo. Ngoko, ngesifo se-Down abaneminyaka engama-16 ubudala, ngowona-1: 1640, abaneminyaka engama-30 ubudala-1: 720, abaneminyaka engama-40 ubudala-sele be-1:70.
3. Ukuzalwa kwabantwana abasedlulileyo abanezifo ezinzulu.
4. Iziganeko eziliqela zokukhulelwa komzimba. Ngokuqhelekileyo, bangela i-genetic okanye i-chromosomal engafanelekanga kumntwana.
5. Ukuthatha ixesha elide ngamachiza ngumfazi (i-anticonvulsant, i-antithyroid, iziyobisi ezichasayo, i-corticosteroids).
6. Ukudibanisa nezinto ezinobuthi kunye ne-radioactive, kunye nokusetyenziswa kotywala kunye nokusetyenziswa kweziyobisi. Konke oku kunokubangela ukuguquka kwemfuyo.
Ndiyabulela ukuphuhliswa kweyeza, ngoku ngoku zonke abazali banokhetho - ukuqhubeka nembali yentsapho yesifo esibi okanye ukuyiphazamisa.
Izindlela zokuthintela
Ukuba usemngciphekweni, kufuneka uhambe ngokubonisana nomfuzo. Ngokusekelwe kwi-pedigree nedata nedatha, uya kuthatha isigqibo sokuba ngaba ukwesaba kwakho kulungile. Ukuba ugqirha uyaqinisekisa ingozi, kufuneka ufumane ukuhlolwa kofuzo. Kuza kubonelela ukuba uhamba neempembelelo eziyingozi.
Ukuba ingozi yokuvelisa inkunzi egulayo iphakamileyo, iingcali zicebisa endaweni yokudalwa kwemvelo ukuba ziqhubele kwi-vitro fertilization (IVF) kunye nokuxilongwa kwe-genetic diagnosis (PGD). I-PGD ivumela iseli enye ithathwe kwi-embryo ukuqonda ukuba iphilile okanye igula. Emva koko, ama-embryo enempilo kuphela akhethwe kwaye afakwa kwisisu. Emva kwe-IVF, izinga lokukhulelwa lingama-40% (ngaphezulu kweyodwa inkqubo inokufuneka). Kufuneka kukhunjulwe ukuba ukuvavanywa kombungu kuqhutyelwa isifo esithile (esichazwe kwangaphambili kwengozi ephezulu). Oku akuthethi ukuba umntwana ozalelwe ekupheleni uqinisekisiwe kwezinye izifo, kuquka nezifo ezifa. I-PGD yindlela enzima kwaye engabizi, kodwa isebenza kakuhle kwizandla zobuchule.
Ngexesha lokukhulelwa, kubalulekile ukutyelela yonke i-ultrasound ecwangcisiweyo kwaye unikele ngegazi "kuvavanyo oluphindwe kathathu" (ukuvavanya umlinganiselo wengozi lophuhliso lwezilwanyana). Ngengozi yokuguqulwa kwe-chromosomal, i-biopsy ye-chorionic ingenziwa. Nangona kukho isongelo sokukhupha isisu, le ntshukumo yenza ukuba kube lula ukucacisa ukuba khona kwe-chromosomal engafanelekiyo. Ukuba zifunyenwe, ukukhulelwa kucebise ukuba kuphazamiseke.