Indlela zihlolisisa zofuzo? ukuhlaziywa kwezakhi zofuzo: ukubuyekezwa, intengo

Ukuthuthukiswa zofuzo ekugcineni ayebadlula izimfundiso kuphela wezobusayensi ziphenduka zomboni. Abaningi odokotela lanamuhla usebenzisa ulwazi ukuhlolwa zofuzo ukubeka okuyikona, babikezele kungenzeka ukuqeda lesi sifo kanye izici ezibangela ukuthuthukiswa yabo. Ukuze wenze lokhu, isiguli udinga kuphela ukuba baphumelele isivivinyo zofuzo ebonisa ukuthi isithombe oluphelele nezici ezithile ukuze isifo.

A amazwi ambalwa mayelana DNA

Dezoksirybonukleinovaya acid (DNA) - iqoqo eziyinkimbinkimbi nucleotide, okuyinto akhiwa iketango - zofuzo. Kuyinto lokhu kumiswa intracellular ithwala Imininingwane lezinceku kubazali futhi adluliselwa izingane.

Ngesikhathi umbungu kumiswa Kwenziwa ngokushesha kakhulu cell division. Kulesi sigaba, endabeni amaphutha amancane, ababiziweyo zofuzo. Is they ukuchaza ubuntu umuntu. Ukuguqula izakhi zofuzo kungaba okuhle nokubi.

Ososayensi baye kancane ngakwazi-United States wokufunda izakhi zofuzo lomuntu nokukwazi. Ziyazi khona ezinye zezakhi zofuzo adala izifo, futhi ezinomthelela ukumelana esingokwemvelo ezinye izifo. ukuhlaziywa kwezakhi zofuzo kunikeza odokotela isithombe ke yindlela engcono aphathe isiguli, unikezwa propensity yakhe.

izifo Monogenic kanye polymorphism

Odokotela batusa ukwenza ukuhlaziywa kwezakhi ngamunye. Kunenkolelo once in a esaphila. Ngokusho imiphumela passport zofuzo senziwa. Leli gama lembula zonke izifo kunokwenzeka kakhulu kanye nezici ezithile kubo.

Ukuze izifo azalwa naso kukhona ukuguquka kwezakhi zofuzo monogenic. Kuphakama ngenxa ukushintshwa nucleotide esisodwa isakhi sofuzo kwenye. Ngokuvamile, bavale lezo zikhala akunangozi, kodwa ngezinye izikhathi kubangele ukugula okungathí sina. Phakathi kwabo kukhona, isibonelo, fenilketanuriya futhi iphethwe isifo sokuwohloka kwemisipha.

Polymorphism lihlotshaniswa esikhundleni nucleotide e isakhi sofuzo, kodwa akusho ngokuqondile kubangele isifo, kodwa kumane kube inkomba yokuthi nezici ezithile ukuze izifo ezinjalo. Polymorphism - into lalivamile. It kuzibonakalisa ezingaphezu kuka-1% abantu sabantu.

Ukuba khona polymorphism ubonisa ukuthi ngaphansi kwezimo ezithile, umphumela zici eziyingozi kungase ube nesifo. Kodwa lokhu akulona sifo, kodwa kuphela okukodwa ongakhetha kukho. Uma ahole indlela yokuphila enempilo, ukugwema izici ezilimazayo, kungenzeka ukuthi lesi sifo ngeke avele.

Rognozirovanie izifo azalwa naso

Ukuthuthukiswa isayensi yezakhi zofuzo yanamuhla hhayi kuphela ukuze uthole ukuthi iqondeni khona izifo azalwa naso noma kungenzeka kubo, kodwa futhi ukubikezela impilo yezingane ongakazalwa. Kuze kube yimanje, abazali esigabeni ukuhlela yokukhulelwa kuyadingeka ukuze kudlule ukuhlaziywa kwezakhi zofuzo. Lokhu kubalulekile ikakhulukazi uma omunye wabazali usunayo i isifo eziyinkimbinkimbi.

Lokhu kusebenza futhi izifo lidlule zofuzo. Phakathi kwazo hemophilia, okuyinto sithinta cishe zonke amakhosi monarchic Omdala Yurophu, lapho imishado ayevamile nokuqinisa isibopho zezombusazwe.

Futhi, ukuhlaziya zofuzo sizobonisa nezici ezithile wengane nomdlavuza, isifo sikashukela, umfutho wegazi ophakeme, isifo senhliziyo. Lokhu kubalulekile ikakhulukazi uma othile abazali esizayo umndeni ube izifo ezinjalo. Ezifweni izakhi zofuzo kungase kube esikhubazayo (ukuyiveza) isimo, kodwa kungenzeka ukuthi esikhathini esizayo ingane zivele.

Ukuhlolwa ngesikhathi sokukhulelwa

Uma ngesikhathi ukuhlela wengane Kunconywa ukuba nginikeze ihlaziya abazali, ngesikhathi sokukhulelwa kwenziwe ukuhlolwa kwezakhi umbungu. Ngenxa yale njongo, zithathwa for ukuhlaziya amniotic fluid, enkabeni intambo igazi noma ingxenye esinomhlapho.

Ukufunda ngezinto ezinjalo ziyadingeka ukucacisa kungenzeka izifo azalwa nako. Lesi isifo ezingalindelekile kakhulu ukuthi kwenzeke ngenxa yokwanda koshintsho fetus ezingeke kusengaphambili kusengaphambili. Phakathi kwalezi zifo basonta-Down syndrome lapho umbungu ngasizathu simbe kukhona chromosome eyengeziwe. Inani ejwayelekile kumuntu - 46 Ama-chromosomes e, 23 ngazimbili, esisodwa kusukela ubaba nomama. Down Syndrome livela lika-47-chromosome ayibhangqiwe.

Futhi, ukuguquka kwezakhi zofuzo zingenzeka ngemva othola izifo eziyinkimbinkimbi ezithathelwanayo ngesikhathi sokukhulelwa: ugcunsula, rubella. Ngokusho imiphumela yalesi ukuhlaziywa kungase wanquma isisu, ngoba umntwana ongakazalwa kungaba unviable ngokuphelele.

Abesifazane basengozini

Yiqiniso, uvivinye isifo fetus kungaba ngcono ukwenza njalo umama okhulelwe, kodwa kukhona eziningana izinkomba salokhu inqubo. Okokuqala, ubudala. Ngemva kweminyaka engu-30, njalo ingozi olukhulu kwezinso ku-fetus. It kwandisa uma sekube nezigameko ka yisisu. Ukuze kusaqalwa uyayiqaphela ingozi, kubalulekile ukuba iphumelele ekuhlolweni okubonisa ukuthi konke ukuze.

Wenzeka kwabesifazane abakhulelwe kanye kwezifo ezithathelwanayo, futhi ukulimala. Bangaphinde nomthelela inkambo kumiswa umbungu. Ukushesha zenzeka, aba maningi amathuba yokwanda koshintsho yingozi.

Kukhona njalo ingozi okungafanele ukuthuthukiswa umbungu, uma ngesikhathi ebamba noma kusaqalwa emva umama wawa ngaphansi kwethonya izici eziyingozi. Basuke ubalwe njengenye utshwala, nemithi enamandla, izinto psychotropic, X-ray kanye nezinye ngemisebe.

Futhi-ke, kungcono ukuthatha isinyathelo ukuze uphephe, uma umndeni kakade unengane eyodwa nge kwezinso azalwa nako.

ubaba wengane Test

Ngesinye isikhathi empilweni, futhi isimo esinjalo lapho ubuyise wengane akusilo. Noma ngasizathu simbe akungabazeki ukuthi ubaba wengane, noma umama nezihlobo wengane. Kulokhu kungenzeka afeze kwegazi zofuzo ukucacisa ubudlelwano. Ukunemba izifundo ezinjalo, ezingaphezu kuka-90%.

Yebo, kanye nenqubo ngokwayo ilula. Kwanele nginikeze umzali igazi nengane. Inkomba Multiple kulula ukunquma ukuthi izakhi zofuzo ezivamile laba bantu ababili.

Ukunqunywa ubuyise, njengoba umthetho, asetshenziswa isayensi forensic ukufakazela noma siphikise isidingo yesondlo injongo.

imithi i-predictive

Minyaka yonke, odokotela bavame ukuba hhayi ukwelapha izifo, kanye ebaxwayisa phambi izimpawu zokuqala. Njengoba kuboniswa ukuhlaziywa kwezakhi zofuzo, lokhu akunzima kangako. Ngoba genotype kungenzeka kakade ukuphakamisa okuyinto izifo umuntu kakhulu.

Lokhu kuthambekela liye labizwa ngokuthi i-predictive (i-predictive) imithi. Ngokusekelwe ipasipoti zofuzo, udokotela inquma ukuphila isiguli, ngokumxwayisa yezinto eziyingozi ukuthi kungaba inhlamvu sokuthuthukiswa isifo. Kulula kakhulu futhi ashibhile kuka ukuthatha isikhathi eside, ngezinye izikhathi bangabi khona kuphumelela kakhulu, imishanguzo.

Ukuhlolela i-HIV / AIDS

Namuhla, ngisho ukuhlolwa i-HIV / AIDS eyenziwe izindlela wezakhi zofuzo. Inqubo akuyona eziyinkimbinkimbi, kodwa ubude besikhathi yocwaningo. Kodwa imiphumela yalesi ukuhlaziywa kunembe kakhulu futhi ukwambulwa.

izikhungo eziningi zanamuhla zokuxilonga ukwenza ukuhlaziywa kwezakhi zofuzo, intengo okuyinto kufinyeleleke kuwo wonke umuntu ukuba isiguli isilinganiso. Konke kuncike ngezinhloso: izindleko kuhluka ruble 300 kuya emashumini ezinkulungwane. Ngakho-ke, asikho isizathu sokwenqaba ukuhlinzeka azokuqhubela isifundo esinjalo ulwazi, ikakhulukazi uma ungagcina izimpilo nina nabantwana benu.